Canonical Allele Identifier: CA355704324
Gene: CRYGS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186539464C>A , CM000665.2:g.186539464C>A GRCh38
NC_000003.11:g.186257253C>A , CM000665.1:g.186257253C>A GRCh37
NC_000003.10:g.187739947C>A NCBI36
NG_009829.1:g.9915G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307944.6:c.155G>T MANE Select ENSP00000312099.5:p.Arg52Met
ENST00000307944.5:c.155G>T ENSP00000312099.5:p.Arg52Met
ENST00000392499.6:c.155G>T ENSP00000376287.2:p.Arg52Met
ENST00000460288.1:n.1057G>T
NM_017541.2:c.155G>T NP_060011.1:p.Arg52Met
NM_017541.3:c.155G>T NP_060011.1:p.Arg52Met
NM_017541.4:c.155G>T MANE Select NP_060011.1:p.Arg52Met