Canonical Allele Identifier: CA670191425

Gene:

Linked Data

• dbSNP Id: rs1428521986
• gnomAD v4: 10-94762601-G-A
• MyVariant Identifiers: chr10:g.96522358G>A (hg19) ; chr10:g.94762601G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94762601G>A , CM000672.2:g.94762601G>A	GRCh38
NC_000010.10:g.96522358G>A , CM000672.1:g.96522358G>A	GRCh37
NC_000010.9:g.96512348G>A	NCBI36
NG_008384.2:g.4896G>A
NG_008384.3:g.4921G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464755.1:c.932-12457G>A	ENSP00000483243.1:n.932-12457G>A