Canonical Allele Identifier: CA595462963

Gene:

Linked Data

• dbSNP Id: rs1409594675
• gnomAD v2: 10-101861448-T-C
• gnomAD v3: 10-100101691-T-C
• gnomAD v4: 10-100101691-T-C
• MyVariant Identifiers: chr10:g.101861448T>C (hg19) ; chr10:g.100101691T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100101691T>C , CM000672.2:g.100101691T>C	GRCh38
NC_000010.10:g.101861448T>C , CM000672.1:g.101861448T>C	GRCh37
NC_000010.9:g.101851438T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_946245.1:n.185+5454T>C