Canonical Allele Identifier: CA2743943
Gene: CRYGS HGNC NCBI

Linked Data

dbSNP Id: rs747349708
ExAC: 3:186257357 T / C
gnomAD v2: 3-186257357-T-C
gnomAD v4: 3-186539568-T-C
MyVariant Identifiers: chr3:g.186257357T>C (hg19) chr3:g.186539568T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186539568T>C , CM000665.2:g.186539568T>C GRCh38
NC_000003.11:g.186257357T>C , CM000665.1:g.186257357T>C GRCh37
NC_000003.10:g.187740051T>C NCBI36
NG_009829.1:g.9811A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307944.6:c.51A>G MANE Select ENSP00000312099.5:p.Gln17=
ENST00000307944.5:c.51A>G ENSP00000312099.5:p.Gln17=
ENST00000392499.6:c.51A>G ENSP00000376287.2:p.Gln17=
ENST00000460288.1:n.953A>G
NM_017541.2:c.51A>G NP_060011.1:p.Gln17=
NM_017541.3:c.51A>G NP_060011.1:p.Gln17=
NM_017541.4:c.51A>G MANE Select NP_060011.1:p.Gln17=
Search 100 bp 5'
Search 100 bp 3'