Canonical Allele Identifier: CA350096359
Gene: CRYGC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129487C>G , CM000664.2:g.208129487C>G GRCh38
NC_000002.11:g.208994211C>G , CM000664.1:g.208994211C>G GRCh37
NC_000002.10:g.208702456C>G NCBI36
NG_008038.1:g.5344G>C
NG_008039.1:g.103G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.206G>C MANE Select ENSP00000282141.3:p.Trp69Ser
ENST00000282141.3:c.206G>C ENSP00000282141.3:p.Trp69Ser
NM_020989.3:c.206G>C NP_066269.1:p.Trp69Ser
NR_038437.1:n.98-7569C>G
XM_011510661.1:c.206G>C XP_011508963.1:p.Trp69Ser
XM_011510662.1:c.206G>C XP_011508964.1:p.Trp69Ser
XM_011510663.1:c.77G>C XP_011508965.1:p.Trp26Ser
NM_020989.4:c.206G>C MANE Select NP_066269.1:p.Trp69Ser