Canonical Allele Identifier: CA437357679
Gene: CRYGS HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.186257261A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186539472A>G , CM000665.2:g.186539472A>G GRCh38
NC_000003.11:g.186257261A>G , CM000665.1:g.186257261A>G GRCh37
NC_000003.10:g.187739955A>G NCBI36
NG_009829.1:g.9907T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307944.6:c.147T>C MANE Select ENSP00000312099.5:p.Val49=
ENST00000307944.5:c.147T>C ENSP00000312099.5:p.Val49=
ENST00000392499.6:c.147T>C ENSP00000376287.2:p.Val49=
ENST00000460288.1:n.1049T>C
NM_017541.2:c.147T>C NP_060011.1:p.Val49=
NM_017541.3:c.147T>C NP_060011.1:p.Val49=
NM_017541.4:c.147T>C MANE Select NP_060011.1:p.Val49=