Canonical Allele Identifier: CA5882575

Gene: AMPD3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.10478587G>A , CM000673.2:g.10478587G>A	GRCh38
NC_000011.9:g.10500134G>A , CM000673.1:g.10500134G>A	GRCh37
NC_000011.8:g.10456710G>A	NCBI36
NG_012041.1:g.32911G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001025389.2:c.283G>A MANE Select	NP_001020560.1:p.Asp95Asn
ENST00000396553.7:c.283G>A MANE Select	ENSP00000379801.2:p.Asp95Asn
NM_000480.2:c.310G>A	NP_000471.1:p.Asp104Asn
NM_000480.3:c.310G>A	NP_000471.1:p.Asp104Asn
NM_001025389.1:c.283G>A	NP_001020560.1:p.Asp95Asn
NM_001025390.1:c.304G>A	NP_001020561.1:p.Asp102Asn
NM_001025390.2:c.304G>A	NP_001020561.1:p.Asp102Asn
NM_001172430.1:c.283G>A	NP_001165901.1:p.Asp95Asn
NM_001172431.1:c.-51-3476G>A	NP_001165902.1:n.-51-3476G>A
NM_001172431.2:c.-51-3476G>A	NP_001165902.1:n.-51-3476G>A
ENST00000396553.6:c.283G>A	ENSP00000379801.2:p.Asp95Asn
ENST00000396554.7:c.310G>A	ENSP00000379802.3:p.Asp104Asn
ENST00000444303.6:c.-51-3476G>A	ENSP00000396000.2:n.-51-3476G>A
ENST00000524866.5:c.283G>A	ENSP00000433284.1:p.Asp95Asn
ENST00000528723.5:c.304G>A	ENSP00000436987.1:p.Asp102Asn
ENST00000529507.5:c.283G>A	ENSP00000431648.1:p.Asp95Asn
ENST00000529834.5:c.283G>A	ENSP00000435382.1:p.Asp95Asn
ENST00000529835.6:n.422-3476G>A
ENST00000532250.5:c.283G>A	ENSP00000432707.1:p.Asp95Asn
ENST00000534047.5:c.310G>A	ENSP00000433937.1:p.Asp104Asn