Canonical Allele Identifier: CA2638676342

Gene:

Linked Data

• gnomAD v4: 17-50211888-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50211888C>T , CM000679.2:g.50211888C>T	GRCh38
NC_000017.10:g.48289249C>T , CM000679.1:g.48289249C>T	GRCh37
NC_000017.9:g.45644248C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934838.1:n.43-1947C>T