Canonical Allele Identifier: CA355704386
Gene: CRYGS HGNC NCBI

Linked Data

gnomAD v4: 3-186539473-A-C
MyVariant Identifiers: chr3:g.186257262A>C (hg19) chr3:g.186539473A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186539473A>C , CM000665.2:g.186539473A>C GRCh38
NC_000003.11:g.186257262A>C , CM000665.1:g.186257262A>C GRCh37
NC_000003.10:g.187739956A>C NCBI36
NG_009829.1:g.9906T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307944.6:c.146T>G MANE Select ENSP00000312099.5:p.Val49Gly
ENST00000307944.5:c.146T>G ENSP00000312099.5:p.Val49Gly
ENST00000392499.6:c.146T>G ENSP00000376287.2:p.Val49Gly
ENST00000460288.1:n.1048T>G
NM_017541.2:c.146T>G NP_060011.1:p.Val49Gly
NM_017541.3:c.146T>G NP_060011.1:p.Val49Gly
NM_017541.4:c.146T>G MANE Select NP_060011.1:p.Val49Gly
Search 100 bp 5'
Search 100 bp 3'