Canonical Allele Identifier: CA350095996
Gene: CRYGC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129446G>C , CM000664.2:g.208129446G>C GRCh38
NC_000002.11:g.208994170G>C , CM000664.1:g.208994170G>C GRCh37
NC_000002.10:g.208702415G>C NCBI36
NG_008038.1:g.5385C>G
NG_008039.1:g.144C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.247C>G MANE Select ENSP00000282141.3:p.Pro83Ala
ENST00000282141.3:c.247C>G ENSP00000282141.3:p.Pro83Ala
NM_020989.3:c.247C>G NP_066269.1:p.Pro83Ala
NR_038437.1:n.98-7610G>C
XM_011510661.1:c.247C>G XP_011508963.1:p.Pro83Ala
XM_011510662.1:c.247C>G XP_011508964.1:p.Pro83Ala
XM_011510663.1:c.118C>G XP_011508965.1:p.Pro40Ala
NM_020989.4:c.247C>G MANE Select NP_066269.1:p.Pro83Ala