Canonical Allele Identifier: CA355704958
Gene: CRYGS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186539570G>A , CM000665.2:g.186539570G>A GRCh38
NC_000003.11:g.186257359G>A , CM000665.1:g.186257359G>A GRCh37
NC_000003.10:g.187740053G>A NCBI36
NG_009829.1:g.9809C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307944.6:c.49C>T MANE Select ENSP00000312099.5:p.Gln17Ter
ENST00000307944.5:c.49C>T ENSP00000312099.5:p.Gln17Ter
ENST00000392499.6:c.49C>T ENSP00000376287.2:p.Gln17Ter
ENST00000460288.1:n.951C>T
NM_017541.2:c.49C>T NP_060011.1:p.Gln17Ter
NM_017541.3:c.49C>T NP_060011.1:p.Gln17Ter
NM_017541.4:c.49C>T MANE Select NP_060011.1:p.Gln17Ter