Canonical Allele Identifier: CA2638676324

Gene:

Linked Data

• gnomAD v4: 17-50211853-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50211853C>T , CM000679.2:g.50211853C>T	GRCh38
NC_000017.10:g.48289214C>T , CM000679.1:g.48289214C>T	GRCh37
NC_000017.9:g.45644213C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934838.1:n.43-1982C>T