Canonical Allele Identifier: CA29051375

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114673187C>T , CM000663.2:g.114673187C>T	GRCh38
NC_000001.10:g.115215808C>T , CM000663.1:g.115215808C>T	GRCh37
NC_000001.9:g.115017331C>T	NCBI36
NG_008012.1:g.27369G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.2159G>A	ENSP00000358551.4:p.Arg720His
ENST00000520113.7:c.2171G>A MANE Select	ENSP00000430075.3:p.Arg724His
ENST00000637080.1:c.1954G>A	ENSP00000489753.1:n.1954G>A
ENST00000639077.1:n.1693G>A
ENST00000639274.1:n.801G>A
ENST00000369538.3:c.2258G>A	ENSP00000358551.3:p.Arg753His
ENST00000520113.6:c.2270G>A	ENSP00000430075.2:p.Arg757His
NM_000036.2:c.2270G>A	NP_000027.2:p.Arg757His
NM_001172626.1:c.2258G>A	NP_001166097.1:p.Arg753His
NM_000036.3:c.2171G>A MANE Select	NP_000027.3:p.Arg724His
NM_001172626.2:c.2159G>A	NP_001166097.2:p.Arg720His