Canonical Allele Identifier: CA595318335

Gene:

Linked Data

• dbSNP Id: rs997814902
• gnomAD v2: 10-96522175-C-G
• gnomAD v3: 10-94762418-C-G
• gnomAD v4: 10-94762418-C-G
• MyVariant Identifiers: chr10:g.96522175C>G (hg19) ; chr10:g.94762418C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94762418C>G , CM000672.2:g.94762418C>G	GRCh38
NC_000010.10:g.96522175C>G , CM000672.1:g.96522175C>G	GRCh37
NC_000010.9:g.96512165C>G	NCBI36
NG_008384.2:g.4713C>G
NG_008384.3:g.4738C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464755.1:c.932-12640C>G	ENSP00000483243.1:n.932-12640C>G