Canonical Allele Identifier: CA2647249032

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114679431-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679431G>T , CM000663.2:g.114679431G>T	GRCh38
NC_000001.10:g.115222052G>T , CM000663.1:g.115222052G>T	GRCh37
NC_000001.9:g.115023575G>T	NCBI36
NG_008012.1:g.21125C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.885+148C>A	ENSP00000358551.4:n.885+148C>A
ENST00000520113.7:c.897+148C>A MANE Select	ENSP00000430075.3:n.897+148C>A
ENST00000637080.1:c.680+148C>A	ENSP00000489753.1:n.680+148C>A
ENST00000639077.1:n.562+148C>A
ENST00000369538.3:c.984+148C>A	ENSP00000358551.3:n.984+148C>A
ENST00000520113.6:c.996+148C>A	ENSP00000430075.2:n.996+148C>A
NM_000036.2:c.996+148C>A	NP_000027.2:n.996+148C>A
NM_001172626.1:c.984+148C>A	NP_001166097.1:n.984+148C>A
NM_000036.3:c.897+148C>A MANE Select	NP_000027.3:n.897+148C>A
NM_001172626.2:c.885+148C>A	NP_001166097.2:n.885+148C>A