Canonical Allele Identifier: CA379648113

Gene: AMPD3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.10461575T>C , CM000673.2:g.10461575T>C	GRCh38
NC_000011.9:g.10483122T>C , CM000673.1:g.10483122T>C	GRCh37
NC_000011.8:g.10439698T>C	NCBI36
NG_012041.1:g.15899T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001025389.2:c.56T>C MANE Select	NP_001020560.1:p.Leu19Pro
ENST00000396553.7:c.56T>C MANE Select	ENSP00000379801.2:p.Leu19Pro
NM_000480.2:c.83T>C	NP_000471.1:p.Leu28Pro
NM_000480.3:c.83T>C	NP_000471.1:p.Leu28Pro
NM_001025389.1:c.56T>C	NP_001020560.1:p.Leu19Pro
NM_001025390.1:c.77T>C	NP_001020561.1:p.Leu26Pro
NM_001025390.2:c.77T>C	NP_001020561.1:p.Leu26Pro
NM_001172430.1:c.56T>C	NP_001165901.1:p.Leu19Pro
NM_001172431.1:c.-217T>C	NP_001165902.1:n.-217T>C
NM_001172431.2:c.-217T>C	NP_001165902.1:n.-217T>C
ENST00000396553.6:c.56T>C	ENSP00000379801.2:p.Leu19Pro
ENST00000396554.7:c.83T>C	ENSP00000379802.3:p.Leu28Pro
ENST00000444303.6:c.-217T>C	ENSP00000396000.2:n.-217T>C
ENST00000524866.5:c.56T>C	ENSP00000433284.1:p.Leu19Pro
ENST00000528723.5:c.77T>C	ENSP00000436987.1:p.Leu26Pro
ENST00000529507.5:c.56T>C	ENSP00000431648.1:p.Leu19Pro
ENST00000529834.5:c.56T>C	ENSP00000435382.1:p.Leu19Pro
ENST00000529835.6:n.256T>C
ENST00000532250.5:c.56T>C	ENSP00000432707.1:p.Leu19Pro
ENST00000534047.5:c.83T>C	ENSP00000433937.1:p.Leu28Pro