Canonical Allele Identifier: CA5882993

Gene: AMPD3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.10495666T>C , CM000673.2:g.10495666T>C	GRCh38
NC_000011.9:g.10517213T>C , CM000673.1:g.10517213T>C	GRCh37
NC_000011.8:g.10473789T>C	NCBI36
NG_012041.1:g.49990T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001025389.2:c.1363T>C MANE Select	NP_001020560.1:p.Tyr455His
ENST00000396553.7:c.1363T>C MANE Select	ENSP00000379801.2:p.Tyr455His
NM_000480.2:c.1390T>C	NP_000471.1:p.Tyr464His
NM_000480.3:c.1390T>C	NP_000471.1:p.Tyr464His
NM_001025389.1:c.1363T>C	NP_001020560.1:p.Tyr455His
NM_001025390.1:c.1384T>C	NP_001020561.1:p.Tyr462His
NM_001025390.2:c.1384T>C	NP_001020561.1:p.Tyr462His
NM_001172430.1:c.1363T>C	NP_001165901.1:p.Tyr455His
NM_001172431.1:c.886T>C	NP_001165902.1:p.Tyr296His
NM_001172431.2:c.886T>C	NP_001165902.1:p.Tyr296His
ENST00000396553.6:c.1363T>C	ENSP00000379801.2:p.Tyr455His
ENST00000396554.7:c.1390T>C	ENSP00000379802.3:p.Tyr464His
ENST00000444303.6:c.886T>C	ENSP00000396000.2:p.Tyr296His
ENST00000528723.5:c.1384T>C	ENSP00000436987.1:p.Tyr462His
ENST00000529507.5:c.1363T>C	ENSP00000431648.1:p.Tyr455His
ENST00000529834.5:c.1363T>C	ENSP00000435382.1:p.Tyr455His
ENST00000534047.5:c.*665T>C	ENSP00000433937.1:n.*665T>C