Canonical Allele Identifier: CA6045793

Gene: AHNAK

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62528360T>G , CM000673.2:g.62528360T>G	GRCh38
NC_000011.9:g.62295832T>G , CM000673.1:g.62295832T>G	GRCh37
NC_000011.8:g.62052408T>G	NCBI36
NG_051822.1:g.23501A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001620.3:c.6057A>C MANE Select	NP_001611.1:p.Lys2019Asn
ENST00000378024.9:c.6057A>C MANE Select	ENSP00000367263.4:p.Lys2019Asn
NM_001346445.1:c.6057A>C	NP_001333374.1:p.Lys2019Asn
NM_001346445.2:c.6057A>C	NP_001333374.1:p.Lys2019Asn
NM_001346446.1:c.6057A>C	NP_001333375.1:p.Lys2019Asn
NM_001346446.2:c.6057A>C	NP_001333375.1:p.Lys2019Asn
NM_001620.2:c.6057A>C	NP_001611.1:p.Lys2019Asn
NM_024060.3:c.342+6643A>C	NP_076965.2:n.342+6643A>C
NM_024060.4:c.342+6643A>C	NP_076965.2:n.342+6643A>C
ENST00000257247.11:c.342+6643A>C	ENSP00000257247.7:n.342+6643A>C
ENST00000378024.8:c.6057A>C	ENSP00000367263.4:p.Lys2019Asn
ENST00000530124.5:c.342+6643A>C	ENSP00000433789.1:n.342+6643A>C
ENST00000533365.5:c.342+6643A>C	ENSP00000433635.1:n.342+6643A>C
XM_005274240.1:c.6057A>C	XP_005274297.1:p.Lys2019Asn
XM_005274241.1:c.6057A>C	XP_005274298.1:p.Lys2019Asn
XM_005274242.1:c.5673A>C	XP_005274299.1:p.Lys1891Asn
XM_005274243.1:c.6057A>C	XP_005274300.1:p.Lys2019Asn
XM_005274244.1:c.6057A>C	XP_005274301.1:p.Lys2019Asn
XM_005274245.1:c.6057A>C	XP_005274302.1:p.Lys2019Asn
XM_011545249.1:c.5673A>C	XP_011543551.1:p.Lys1891Asn
XM_011545250.1:c.6057A>C	XP_011543552.1:p.Lys2019Asn
XM_017018270.1:c.5856A>C	XP_016873759.1:p.Lys1952Asn