Canonical Allele Identifier: CA350097279
Gene: CRYGC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129573G>C , CM000664.2:g.208129573G>C GRCh38
NC_000002.11:g.208994297G>C , CM000664.1:g.208994297G>C GRCh37
NC_000002.10:g.208702542G>C NCBI36
NG_008038.1:g.5258C>G
NG_008039.1:g.17C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.120C>G MANE Select ENSP00000282141.3:p.Ser40Arg
ENST00000282141.3:c.120C>G ENSP00000282141.3:p.Ser40Arg
NM_020989.3:c.120C>G NP_066269.1:p.Ser40Arg
NR_038437.1:n.98-7483G>C
XM_011510661.1:c.120C>G XP_011508963.1:p.Ser40Arg
XM_011510662.1:c.120C>G XP_011508964.1:p.Ser40Arg
XM_011510663.1:c.-10C>G XP_011508965.1:n.-10C>G
NM_020989.4:c.120C>G MANE Select NP_066269.1:p.Ser40Arg