Canonical Allele Identifier: CA354082647

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120675805A>G , CM000665.2:g.120675805A>G	GRCh38
NC_000003.11:g.120394652A>G , CM000665.1:g.120394652A>G	GRCh37
NC_000003.10:g.121877342A>G	NCBI36
NG_011957.1:g.11677T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.74T>C MANE Select	NP_000178.2:p.Leu25Pro
ENST00000283871.10:c.74T>C MANE Select	ENSP00000283871.5:p.Leu25Pro
NM_000187.3:c.74T>C	NP_000178.2:p.Leu25Pro
ENST00000283871.9:c.74T>C	ENSP00000283871.5:p.Leu25Pro
ENST00000466528.5:n.100T>C
ENST00000476082.2:c.40T>C	ENSP00000419560.2:p.Cys14Arg
ENST00000480862.1:n.232T>C
ENST00000485313.5:n.182T>C
ENST00000488183.5:n.332T>C
XM_005247412.1:c.74T>C	XP_005247469.1:p.Leu25Pro
XM_005247412.2:c.74T>C	XP_005247469.1:p.Leu25Pro
XM_005247413.1:c.74T>C	XP_005247470.1:p.Leu25Pro
XM_005247413.2:c.74T>C	XP_005247470.1:p.Leu25Pro
XM_005247414.3:c.74T>C	XP_005247471.1:p.Leu25Pro
XM_005247414.5:c.74T>C	XP_005247471.1:p.Leu25Pro
XM_011512746.1:c.74T>C	XP_011511048.1:p.Leu25Pro
XM_011512746.2:c.74T>C	XP_011511048.1:p.Leu25Pro
XM_017006277.2:c.-350T>C	XP_016861766.1:n.-350T>C