Canonical Allele Identifier: CA350096892
Gene: CRYGC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129530G>T , CM000664.2:g.208129530G>T GRCh38
NC_000002.11:g.208994254G>T , CM000664.1:g.208994254G>T GRCh37
NC_000002.10:g.208702499G>T NCBI36
NG_008038.1:g.5301C>A
NG_008039.1:g.60C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.163C>A MANE Select ENSP00000282141.3:p.Gln55Lys
ENST00000282141.3:c.163C>A ENSP00000282141.3:p.Gln55Lys
NM_020989.3:c.163C>A NP_066269.1:p.Gln55Lys
NR_038437.1:n.98-7526G>T
XM_011510661.1:c.163C>A XP_011508963.1:p.Gln55Lys
XM_011510662.1:c.163C>A XP_011508964.1:p.Gln55Lys
XM_011510663.1:c.34C>A XP_011508965.1:p.Gln12Lys
NM_020989.4:c.163C>A MANE Select NP_066269.1:p.Gln55Lys