Canonical Allele Identifier: CA355704434
Gene: CRYGS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186539480A>T , CM000665.2:g.186539480A>T GRCh38
NC_000003.11:g.186257269A>T , CM000665.1:g.186257269A>T GRCh37
NC_000003.10:g.187739963A>T NCBI36
NG_009829.1:g.9899T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307944.6:c.139T>A MANE Select ENSP00000312099.5:p.Trp47Arg
ENST00000307944.5:c.139T>A ENSP00000312099.5:p.Trp47Arg
ENST00000392499.6:c.139T>A ENSP00000376287.2:p.Trp47Arg
ENST00000460288.1:n.1041T>A
NM_017541.2:c.139T>A NP_060011.1:p.Trp47Arg
NM_017541.3:c.139T>A NP_060011.1:p.Trp47Arg
NM_017541.4:c.139T>A MANE Select NP_060011.1:p.Trp47Arg