Canonical Allele Identifier: CA355704394
Gene: CRYGS HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.186257263C>G (hg19) chr3:g.186539474C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186539474C>G , CM000665.2:g.186539474C>G GRCh38
NC_000003.11:g.186257263C>G , CM000665.1:g.186257263C>G GRCh37
NC_000003.10:g.187739957C>G NCBI36
NG_009829.1:g.9905G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307944.6:c.145G>C MANE Select ENSP00000312099.5:p.Val49Leu
ENST00000307944.5:c.145G>C ENSP00000312099.5:p.Val49Leu
ENST00000392499.6:c.145G>C ENSP00000376287.2:p.Val49Leu
ENST00000460288.1:n.1047G>C
NM_017541.2:c.145G>C NP_060011.1:p.Val49Leu
NM_017541.3:c.145G>C NP_060011.1:p.Val49Leu
NM_017541.4:c.145G>C MANE Select NP_060011.1:p.Val49Leu
Search 100 bp 5'
Search 100 bp 3'