Canonical Allele Identifier: CA355704496
Gene: CRYGS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186539494A>C , CM000665.2:g.186539494A>C GRCh38
NC_000003.11:g.186257283A>C , CM000665.1:g.186257283A>C GRCh37
NC_000003.10:g.187739977A>C NCBI36
NG_009829.1:g.9885T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307944.6:c.125T>G MANE Select ENSP00000312099.5:p.Val42Gly
ENST00000307944.5:c.125T>G ENSP00000312099.5:p.Val42Gly
ENST00000392499.6:c.125T>G ENSP00000376287.2:p.Val42Gly
ENST00000460288.1:n.1027T>G
NM_017541.2:c.125T>G NP_060011.1:p.Val42Gly
NM_017541.3:c.125T>G NP_060011.1:p.Val42Gly
NM_017541.4:c.125T>G MANE Select NP_060011.1:p.Val42Gly