Canonical Allele Identifier: CA2647247359

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677625-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677625G>T , CM000663.2:g.114677625G>T	GRCh38
NC_000001.10:g.115220246G>T , CM000663.1:g.115220246G>T	GRCh37
NC_000001.9:g.115021769G>T	NCBI36
NG_008012.1:g.22931C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1213-111C>A	ENSP00000358551.4:n.1213-111C>A
ENST00000520113.7:c.1225-111C>A MANE Select	ENSP00000430075.3:n.1225-111C>A
ENST00000637080.1:c.1008-111C>A	ENSP00000489753.1:n.1008-111C>A
ENST00000639077.1:n.890-111C>A
ENST00000369538.3:c.1312-111C>A	ENSP00000358551.3:n.1312-111C>A
ENST00000520113.6:c.1324-111C>A	ENSP00000430075.2:n.1324-111C>A
NM_000036.2:c.1324-111C>A	NP_000027.2:n.1324-111C>A
NM_001172626.1:c.1312-111C>A	NP_001166097.1:n.1312-111C>A
NM_000036.3:c.1225-111C>A MANE Select	NP_000027.3:n.1225-111C>A
NM_001172626.2:c.1213-111C>A	NP_001166097.2:n.1213-111C>A