Canonical Allele Identifier: CA350097090
Gene: CRYGC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129548G>C , CM000664.2:g.208129548G>C GRCh38
NC_000002.11:g.208994272G>C , CM000664.1:g.208994272G>C GRCh37
NC_000002.10:g.208702517G>C NCBI36
NG_008038.1:g.5283C>G
NG_008039.1:g.42C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.145C>G MANE Select ENSP00000282141.3:p.Pro49Ala
ENST00000282141.3:c.145C>G ENSP00000282141.3:p.Pro49Ala
NM_020989.3:c.145C>G NP_066269.1:p.Pro49Ala
NR_038437.1:n.98-7508G>C
XM_011510661.1:c.145C>G XP_011508963.1:p.Pro49Ala
XM_011510662.1:c.145C>G XP_011508964.1:p.Pro49Ala
XM_011510663.1:c.16C>G XP_011508965.1:p.Pro6Ala
NM_020989.4:c.145C>G MANE Select NP_066269.1:p.Pro49Ala