Canonical Allele Identifier: CA355704960
Gene: CRYGS HGNC NCBI

Linked Data

dbSNP Id: rs1714010406
gnomAD v4: 3-186539570-G-C
MyVariant Identifiers: chr3:g.186257359G>C (hg19) chr3:g.186539570G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186539570G>C , CM000665.2:g.186539570G>C GRCh38
NC_000003.11:g.186257359G>C , CM000665.1:g.186257359G>C GRCh37
NC_000003.10:g.187740053G>C NCBI36
NG_009829.1:g.9809C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307944.6:c.49C>G MANE Select ENSP00000312099.5:p.Gln17Glu
ENST00000307944.5:c.49C>G ENSP00000312099.5:p.Gln17Glu
ENST00000392499.6:c.49C>G ENSP00000376287.2:p.Gln17Glu
ENST00000460288.1:n.951C>G
NM_017541.2:c.49C>G NP_060011.1:p.Gln17Glu
NM_017541.3:c.49C>G NP_060011.1:p.Gln17Glu
NM_017541.4:c.49C>G MANE Select NP_060011.1:p.Gln17Glu
Search 100 bp 5'
Search 100 bp 3'