Canonical Allele Identifier: CA211666110

Gene:

Linked Data

• dbSNP Id: rs1050518192
• gnomAD v3: 10-94762609-A-T
• gnomAD v4: 10-94762609-A-T
• MyVariant Identifiers: chr10:g.96522366A>T (hg19) ; chr10:g.94762609A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94762609A>T , CM000672.2:g.94762609A>T	GRCh38
NC_000010.10:g.96522366A>T , CM000672.1:g.96522366A>T	GRCh37
NC_000010.9:g.96512356A>T	NCBI36
NG_008384.2:g.4904A>T
NG_008384.3:g.4929A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000464755.1:c.932-12449A>T	ENSP00000483243.1:n.932-12449A>T