Canonical Allele Identifier: CA341748975

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677926A>G , CM000663.2:g.114677926A>G	GRCh38
NC_000001.10:g.115220547A>G , CM000663.1:g.115220547A>G	GRCh37
NC_000001.9:g.115022070A>G	NCBI36
NG_008012.1:g.22630T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000036.3:c.1208T>C MANE Select	NP_000027.3:p.Phe403Ser
ENST00000520113.7:c.1208T>C MANE Select	ENSP00000430075.3:p.Phe403Ser
NM_000036.2:c.1307T>C	NP_000027.2:p.Phe436Ser
NM_001172626.1:c.1295T>C	NP_001166097.1:p.Phe432Ser
NM_001172626.2:c.1196T>C	NP_001166097.2:p.Phe399Ser
ENST00000369538.3:c.1295T>C	ENSP00000358551.3:p.Phe432Ser
ENST00000369538.4:c.1196T>C	ENSP00000358551.4:p.Phe399Ser
ENST00000520113.6:c.1307T>C	ENSP00000430075.2:p.Phe436Ser
ENST00000637080.1:c.991T>C	ENSP00000489753.1:n.991T>C
ENST00000639077.1:n.873T>C