Canonical Allele Identifier: CA350097125
Gene: CRYGC HGNC NCBI

Linked Data

dbSNP Id: rs201568695
COSMIC: COSM310343

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129551G>T , CM000664.2:g.208129551G>T GRCh38
NC_000002.11:g.208994275G>T , CM000664.1:g.208994275G>T GRCh37
NC_000002.10:g.208702520G>T NCBI36
NG_008038.1:g.5280C>A
NG_008039.1:g.39C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.142C>A MANE Select ENSP00000282141.3:p.Arg48Ser
ENST00000282141.3:c.142C>A ENSP00000282141.3:p.Arg48Ser
NM_020989.3:c.142C>A NP_066269.1:p.Arg48Ser
NR_038437.1:n.98-7505G>T
XM_011510661.1:c.142C>A XP_011508963.1:p.Arg48Ser
XM_011510662.1:c.142C>A XP_011508964.1:p.Arg48Ser
XM_011510663.1:c.13C>A XP_011508965.1:p.Arg5Ser
NM_020989.4:c.142C>A MANE Select NP_066269.1:p.Arg48Ser