Canonical Allele Identifier: CA1066321222

Gene:

Linked Data

• dbSNP Id: rs1724786400
• gnomAD v3: 4-105542831-A-T
• gnomAD v4: 4-105542831-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.105542831A>T , CM000666.2:g.105542831A>T	GRCh38
NC_000004.11:g.106463988A>T , CM000666.1:g.106463988A>T	GRCh37
NC_000004.10:g.106683437A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939038.1:n.296-122T>A
XR_939039.1:n.456-122T>A
XR_939040.1:n.296-1355T>A
XR_001741410.1:n.311-122T>A
XR_001741411.1:n.787-122T>A
XR_001741412.1:n.311-122T>A
XR_001741413.1:n.311-122T>A
XR_001741414.1:n.311-122T>A
XR_939038.2:n.311-122T>A
XR_939040.2:n.311-1355T>A