Canonical Allele Identifier: CA13165227

Gene:

Linked Data

• dbSNP Id: rs4986894
• gnomAD v2: 10-96522365-T-C
• gnomAD v3: 10-94762608-T-C
• gnomAD v4: 10-94762608-T-C
• MyVariant Identifiers: chr10:g.96522365T>C (hg19) ; chr10:g.94762608T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94762608T>C , CM000672.2:g.94762608T>C	GRCh38
NC_000010.10:g.96522365T>C , CM000672.1:g.96522365T>C	GRCh37
NC_000010.9:g.96512355T>C	NCBI36
NG_008384.2:g.4903T>C
NG_008384.3:g.4928T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000464755.1:c.932-12450T>C	ENSP00000483243.1:n.932-12450T>C