Canonical Allele Identifier: CA10636958

Gene: AMPD3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.10478657C>T , CM000673.2:g.10478657C>T	GRCh38
NC_000011.9:g.10500204C>T , CM000673.1:g.10500204C>T	GRCh37
NC_000011.8:g.10456780C>T	NCBI36
NG_012041.1:g.32981C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001025389.2:c.353C>T MANE Select	NP_001020560.1:p.Ser118Phe
ENST00000396553.7:c.353C>T MANE Select	ENSP00000379801.2:p.Ser118Phe
NM_000480.2:c.380C>T	NP_000471.1:p.Ser127Phe
NM_000480.3:c.380C>T	NP_000471.1:p.Ser127Phe
NM_001025389.1:c.353C>T	NP_001020560.1:p.Ser118Phe
NM_001025390.1:c.374C>T	NP_001020561.1:p.Ser125Phe
NM_001025390.2:c.374C>T	NP_001020561.1:p.Ser125Phe
NM_001172430.1:c.353C>T	NP_001165901.1:p.Ser118Phe
NM_001172431.1:c.-51-3406C>T	NP_001165902.1:n.-51-3406C>T
NM_001172431.2:c.-51-3406C>T	NP_001165902.1:n.-51-3406C>T
ENST00000396553.6:c.353C>T	ENSP00000379801.2:p.Ser118Phe
ENST00000396554.7:c.380C>T	ENSP00000379802.3:p.Ser127Phe
ENST00000444303.6:c.-51-3406C>T	ENSP00000396000.2:n.-51-3406C>T
ENST00000524866.5:c.353C>T	ENSP00000433284.1:p.Ser118Phe
ENST00000528723.5:c.374C>T	ENSP00000436987.1:p.Ser125Phe
ENST00000529507.5:c.353C>T	ENSP00000431648.1:p.Ser118Phe
ENST00000529834.5:c.353C>T	ENSP00000435382.1:p.Ser118Phe
ENST00000529835.6:n.422-3406C>T
ENST00000534047.5:c.380C>T	ENSP00000433937.1:p.Ser127Phe