Canonical Allele Identifier: CA355704348
Gene: CRYGS HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000307944.6:c.152A>C MANE Select ENSP00000312099.5:p.Glu51Ala
ENST00000307944.5:c.152A>C ENSP00000312099.5:p.Glu51Ala
ENST00000392499.6:c.152A>C ENSP00000376287.2:p.Glu51Ala
ENST00000460288.1:n.1054A>C
NM_017541.2:c.152A>C NP_060011.1:p.Glu51Ala
NM_017541.3:c.152A>C NP_060011.1:p.Glu51Ala
NM_017541.4:c.152A>C MANE Select NP_060011.1:p.Glu51Ala