Canonical Allele Identifier: CA355704417
Gene: CRYGS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186539479C>G , CM000665.2:g.186539479C>G GRCh38
NC_000003.11:g.186257268C>G , CM000665.1:g.186257268C>G GRCh37
NC_000003.10:g.187739962C>G NCBI36
NG_009829.1:g.9900G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307944.6:c.140G>C MANE Select ENSP00000312099.5:p.Trp47Ser
ENST00000307944.5:c.140G>C ENSP00000312099.5:p.Trp47Ser
ENST00000392499.6:c.140G>C ENSP00000376287.2:p.Trp47Ser
ENST00000460288.1:n.1042G>C
NM_017541.2:c.140G>C NP_060011.1:p.Trp47Ser
NM_017541.3:c.140G>C NP_060011.1:p.Trp47Ser
NM_017541.4:c.140G>C MANE Select NP_060011.1:p.Trp47Ser