Canonical Allele Identifier: CA977150986

Gene:

Linked Data

• dbSNP Id: rs1961465769
• gnomAD v3: 16-49108531-A-T
• gnomAD v4: 16-49108531-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.49108531A>T , CM000678.2:g.49108531A>T	GRCh38
NC_000016.9:g.49142442A>T , CM000678.1:g.49142442A>T	GRCh37
NC_000016.8:g.47699943A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933517.1:n.810+1413T>A
XR_001752138.2:n.591+5445T>A
XR_933517.2:n.810+1413T>A