Canonical Allele Identifier: CA350096896
Gene: CRYGC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129531T>A , CM000664.2:g.208129531T>A GRCh38
NC_000002.11:g.208994255T>A , CM000664.1:g.208994255T>A GRCh37
NC_000002.10:g.208702500T>A NCBI36
NG_008038.1:g.5300A>T
NG_008039.1:g.59A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.162A>T MANE Select ENSP00000282141.3:p.Gln54His
ENST00000282141.3:c.162A>T ENSP00000282141.3:p.Gln54His
NM_020989.3:c.162A>T NP_066269.1:p.Gln54His
NR_038437.1:n.98-7525T>A
XM_011510661.1:c.162A>T XP_011508963.1:p.Gln54His
XM_011510662.1:c.162A>T XP_011508964.1:p.Gln54His
XM_011510663.1:c.33A>T XP_011508965.1:p.Gln11His
NM_020989.4:c.162A>T MANE Select NP_066269.1:p.Gln54His