Canonical Allele Identifier: CA1303195

Gene:

Linked Data

• dbSNP Id: rs774319038
• ExAC: 1:193090934 T / A
• gnomAD v2: 1-193090934-T-A
• gnomAD v4: 1-193121804-T-A
• MyVariant Identifiers: chr1:g.193090934T>A (hg19) ; chr1:g.193121804T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193121804T>A , CM000663.2:g.193121804T>A	GRCh38
NC_000001.10:g.193090934T>A , CM000663.1:g.193090934T>A	GRCh37
NC_000001.9:g.191357557T>A	NCBI36
NG_012691.1:g.4847T>A , LRG_507:g.4847T>A

Transcript Alleles

HGVS	Amino-acid Change
XR_001738350.1:n.1853A>T