Canonical Allele Identifier: CA350096629
Gene: CRYGC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129508T>A , CM000664.2:g.208129508T>A GRCh38
NC_000002.11:g.208994232T>A , CM000664.1:g.208994232T>A GRCh37
NC_000002.10:g.208702477T>A NCBI36
NG_008038.1:g.5323A>T
NG_008039.1:g.82A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.185A>T MANE Select ENSP00000282141.3:p.Glu62Val
ENST00000282141.3:c.185A>T ENSP00000282141.3:p.Glu62Val
NM_020989.3:c.185A>T NP_066269.1:p.Glu62Val
NR_038437.1:n.98-7548T>A
XM_011510661.1:c.185A>T XP_011508963.1:p.Glu62Val
XM_011510662.1:c.185A>T XP_011508964.1:p.Glu62Val
XM_011510663.1:c.56A>T XP_011508965.1:p.Glu19Val
NM_020989.4:c.185A>T MANE Select NP_066269.1:p.Glu62Val