Canonical Allele Identifier: CA942547573

Gene:

Linked Data

• gnomAD v3: 11-116072535-A-T
• gnomAD v4: 11-116072535-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116072535A>T , CM000673.2:g.116072535A>T	GRCh38
NC_000011.9:g.115943253A>T , CM000673.1:g.115943253A>T	GRCh37
NC_000011.8:g.115448463A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948055.1:n.192+479T>A
XR_948056.1:n.311-5330T>A
XR_948057.1:n.97+574T>A
XR_001748401.1:n.192+479T>A
XR_948055.2:n.192+479T>A
XR_948056.2:n.314-5330T>A
XR_948057.2:n.97+574T>A