Canonical Allele Identifier: CA2743940
Gene: CRYGS HGNC NCBI

Linked Data

dbSNP Id: rs750658278
ExAC: 3:186257352 C / T
gnomAD v2: 3-186257352-C-T
gnomAD v3: 3-186539563-C-T
gnomAD v4: 3-186539563-C-T
MyVariant Identifiers: chr3:g.186257352C>T (hg19) chr3:g.186539563C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186539563C>T , CM000665.2:g.186539563C>T GRCh38
NC_000003.11:g.186257352C>T , CM000665.1:g.186257352C>T GRCh37
NC_000003.10:g.187740046C>T NCBI36
NG_009829.1:g.9816G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307944.6:c.56G>A MANE Select ENSP00000312099.5:p.Arg19His
ENST00000307944.5:c.56G>A ENSP00000312099.5:p.Arg19His
ENST00000392499.6:c.56G>A ENSP00000376287.2:p.Arg19His
ENST00000460288.1:n.958G>A
NM_017541.2:c.56G>A NP_060011.1:p.Arg19His
NM_017541.3:c.56G>A NP_060011.1:p.Arg19His
NM_017541.4:c.56G>A MANE Select NP_060011.1:p.Arg19His
Search 100 bp 5'
Search 100 bp 3'