Canonical Allele Identifier: CA355704783
Gene: CRYGS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186539537C>T , CM000665.2:g.186539537C>T GRCh38
NC_000003.11:g.186257326C>T , CM000665.1:g.186257326C>T GRCh37
NC_000003.10:g.187740020C>T NCBI36
NG_009829.1:g.9842G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307944.6:c.82G>A MANE Select ENSP00000312099.5:p.Ala28Thr
ENST00000307944.5:c.82G>A ENSP00000312099.5:p.Ala28Thr
ENST00000392499.6:c.82G>A ENSP00000376287.2:p.Ala28Thr
ENST00000460288.1:n.984G>A
NM_017541.2:c.82G>A NP_060011.1:p.Ala28Thr
NM_017541.3:c.82G>A NP_060011.1:p.Ala28Thr
NM_017541.4:c.82G>A MANE Select NP_060011.1:p.Ala28Thr