Canonical Allele Identifier: CA350097299
Gene: CRYGC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129577T>G , CM000664.2:g.208129577T>G GRCh38
NC_000002.11:g.208994301T>G , CM000664.1:g.208994301T>G GRCh37
NC_000002.10:g.208702546T>G NCBI36
NG_008038.1:g.5254A>C
NG_008039.1:g.13A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.116A>C MANE Select ENSP00000282141.3:p.Glu39Ala
ENST00000282141.3:c.116A>C ENSP00000282141.3:p.Glu39Ala
NM_020989.3:c.116A>C NP_066269.1:p.Glu39Ala
NR_038437.1:n.98-7479T>G
XM_011510661.1:c.116A>C XP_011508963.1:p.Glu39Ala
XM_011510662.1:c.116A>C XP_011508964.1:p.Glu39Ala
XM_011510663.1:c.-14A>C XP_011508965.1:n.-14A>C
NM_020989.4:c.116A>C MANE Select NP_066269.1:p.Glu39Ala