Canonical Allele Identifier: CA1216113191

Gene:

Linked Data

• dbSNP Id: rs781518349
• gnomAD v4: 1-193121873-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193121873C>A , CM000663.2:g.193121873C>A	GRCh38
NC_000001.10:g.193091003C>A , CM000663.1:g.193091003C>A	GRCh37
NC_000001.9:g.191357626C>A	NCBI36
NG_012691.1:g.4916C>A , LRG_507:g.4916C>A

Transcript Alleles

HGVS	Amino-acid Change
XR_001738350.1:n.1784G>T