Canonical Allele Identifier: CA355704342
Gene: CRYGS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186539467T>A , CM000665.2:g.186539467T>A GRCh38
NC_000003.11:g.186257256T>A , CM000665.1:g.186257256T>A GRCh37
NC_000003.10:g.187739950T>A NCBI36
NG_009829.1:g.9912A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307944.6:c.152A>T MANE Select ENSP00000312099.5:p.Glu51Val
ENST00000307944.5:c.152A>T ENSP00000312099.5:p.Glu51Val
ENST00000392499.6:c.152A>T ENSP00000376287.2:p.Glu51Val
ENST00000460288.1:n.1054A>T
NM_017541.2:c.152A>T NP_060011.1:p.Glu51Val
NM_017541.3:c.152A>T NP_060011.1:p.Glu51Val
NM_017541.4:c.152A>T MANE Select NP_060011.1:p.Glu51Val