Canonical Allele Identifier: CA982817145

Gene:

Linked Data

• dbSNP Id: rs1567700665
• gnomAD v3: 17-29376360-G-A
• gnomAD v4: 17-29376360-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.29376360G>A , CM000679.2:g.29376360G>A	GRCh38
NC_000017.10:g.27703378G>A , CM000679.1:g.27703378G>A	GRCh37
NC_000017.9:g.24727504G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011525588.1:c.1008-6055C>T	XP_011523890.1:n.1008-6055C>T