Canonical Allele Identifier: CA475988047

Gene: ALG8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78139553A>G , CM000673.2:g.78139553A>G	GRCh38
NC_000011.9:g.77850599A>G , CM000673.1:g.77850599A>G	GRCh37
NC_000011.8:g.77528247A>G	NCBI36
NG_008926.1:g.5101T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024079.5:c.36T>C MANE Select	NP_076984.2:p.Asn12=
ENST00000299626.10:c.36T>C MANE Select	ENSP00000299626.5:p.Asn12=
NM_001007027.2:c.36T>C	NP_001007028.1:p.Asn12=
NM_001007027.3:c.36T>C	NP_001007028.1:p.Asn12=
NM_024079.4:c.36T>C	NP_076984.2:p.Asn12=
ENST00000299626.9:c.36T>C	ENSP00000299626.5:p.Asn12=
ENST00000376156.7:c.36T>C	ENSP00000365326.3:p.Asn12=
ENST00000525755.5:c.-39T>C	ENSP00000435467.1:n.-39T>C
ENST00000525755.6:c.36T>C	ENSP00000435467.2:p.Asn12=
ENST00000525761.2:c.-101T>C	ENSP00000431357.2:n.-101T>C
ENST00000525761.3:c.-287T>C	ENSP00000431357.3:n.-287T>C
ENST00000525783.6:c.-150T>C	ENSP00000434066.2:n.-150T>C
ENST00000525870.5:c.-194T>C	ENSP00000435417.1:n.-194T>C
ENST00000525870.6:c.36T>C	ENSP00000435417.2:p.Asn12=
ENST00000526737.5:c.36T>C	ENSP00000436366.1:p.Asn12=
ENST00000526737.6:c.36T>C	ENSP00000436366.2:p.Asn12=
ENST00000526849.6:c.36T>C	ENSP00000434388.2:p.Asn12=
ENST00000526928.1:n.92T>C
ENST00000527099.1:c.-347T>C	ENSP00000436064.1:n.-347T>C
ENST00000527099.2:c.-347T>C	ENSP00000436064.2:n.-347T>C
ENST00000529139.6:c.36T>C	ENSP00000432953.2:p.Asn12=
ENST00000530454.5:c.36T>C	ENSP00000434660.1:p.Asn12=
ENST00000530454.6:c.36T>C	ENSP00000434660.2:p.Asn12=
ENST00000530608.6:c.36T>C	ENSP00000432381.2:p.Asn12=
ENST00000532050.5:c.36T>C	ENSP00000437199.1:p.Asn12=
ENST00000532306.6:c.36T>C	ENSP00000435626.2:p.Asn12=
ENST00000532440.6:c.36T>C	ENSP00000433429.2:p.Asn12=
ENST00000532552.2:n.62T>C
ENST00000615266.4:c.36T>C	ENSP00000480742.1:p.Asn12=
ENST00000615266.5:c.36T>C	ENSP00000480742.2:p.Asn12=
ENST00000679444.1:c.-633T>C	ENSP00000506099.1:n.-633T>C
ENST00000679497.1:c.-1131T>C	ENSP00000505407.1:n.-1131T>C
ENST00000679539.1:c.36T>C	ENSP00000504910.1:p.Asn12=
ENST00000679559.1:c.36T>C	ENSP00000505433.1:p.Asn12=
ENST00000679648.1:c.-150T>C	ENSP00000505726.1:n.-150T>C
ENST00000679685.1:c.-1013T>C	ENSP00000505698.1:n.-1013T>C
ENST00000679697.1:c.36T>C	ENSP00000505696.1:p.Asn12=
ENST00000679874.1:c.-1549T>C	ENSP00000506314.1:n.-1549T>C
ENST00000679986.1:c.-347T>C	ENSP00000505614.1:n.-347T>C
ENST00000680063.1:c.-480T>C	ENSP00000504928.1:n.-480T>C
ENST00000680101.1:c.-212T>C	ENSP00000504917.1:n.-212T>C
ENST00000680142.1:n.61T>C
ENST00000680223.1:c.36T>C	ENSP00000505023.1:p.Asn12=
ENST00000680256.1:c.36T>C	ENSP00000505074.1:p.Asn12=
ENST00000680398.1:c.36T>C	ENSP00000506189.1:p.Asn12=
ENST00000680399.1:c.36T>C	ENSP00000505984.1:p.Asn12=
ENST00000680459.1:c.36T>C	ENSP00000506617.1:p.Asn12=
ENST00000680467.1:c.36T>C	ENSP00000505609.1:p.Asn12=
ENST00000680580.1:c.-480T>C	ENSP00000506170.1:n.-480T>C
ENST00000680643.1:c.36T>C	ENSP00000505207.1:p.Asn12=
ENST00000680761.1:c.-194T>C	ENSP00000506421.1:n.-194T>C
ENST00000680797.1:c.-1013T>C	ENSP00000506717.1:n.-1013T>C
ENST00000680829.1:c.-1013T>C	ENSP00000506408.1:n.-1013T>C
ENST00000680866.1:c.36T>C	ENSP00000505649.1:p.Asn12=
ENST00000680996.1:c.-1013T>C	ENSP00000505468.1:n.-1013T>C
ENST00000681221.1:c.-150T>C	ENSP00000505136.1:n.-150T>C
ENST00000681351.1:c.-1013T>C	ENSP00000506652.1:n.-1013T>C
ENST00000681384.1:c.-1013T>C	ENSP00000506249.1:n.-1013T>C
ENST00000681489.1:c.-347T>C	ENSP00000505200.1:n.-347T>C
ENST00000681575.1:c.-1017T>C	ENSP00000505743.1:n.-1017T>C
ENST00000681699.1:c.-1002T>C	ENSP00000504969.1:n.-1002T>C
ENST00000681723.1:c.-347T>C	ENSP00000506059.1:n.-347T>C
ENST00000681957.1:c.36T>C	ENSP00000506056.1:p.Asn12=
XM_005274247.3:c.-776T>C	XP_005274304.1:n.-776T>C
XM_011545251.1:c.36T>C	XP_011543553.1:p.Asn12=
XM_011545252.1:c.-250T>C	XP_011543554.1:n.-250T>C
XM_011545252.2:c.-250T>C	XP_011543554.1:n.-250T>C
XM_017018274.1:c.-776T>C	XP_016873763.1:n.-776T>C
XR_001747956.1:n.74T>C
XR_428923.2:n.108T>C
XR_428923.4:n.91T>C
XR_950044.1:n.108T>C
XR_950044.3:n.91T>C
XR_950045.1:n.108T>C
XR_950045.3:n.91T>C