Canonical Allele Identifier: CA355704320
Gene: CRYGS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186539462G>T , CM000665.2:g.186539462G>T GRCh38
NC_000003.11:g.186257251G>T , CM000665.1:g.186257251G>T GRCh37
NC_000003.10:g.187739945G>T NCBI36
NG_009829.1:g.9917C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307944.6:c.157C>A MANE Select ENSP00000312099.5:p.Pro53Thr
ENST00000307944.5:c.157C>A ENSP00000312099.5:p.Pro53Thr
ENST00000392499.6:c.157C>A ENSP00000376287.2:p.Pro53Thr
ENST00000460288.1:n.1059C>A
NM_017541.2:c.157C>A NP_060011.1:p.Pro53Thr
NM_017541.3:c.157C>A NP_060011.1:p.Pro53Thr
NM_017541.4:c.157C>A MANE Select NP_060011.1:p.Pro53Thr