Canonical Allele Identifier: CA10637438

Gene: AMPD3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.10506171T>C , CM000673.2:g.10506171T>C	GRCh38
NC_000011.9:g.10527718T>C , CM000673.1:g.10527718T>C	GRCh37
NC_000011.8:g.10484294T>C	NCBI36
NG_012041.1:g.60495T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001025389.2:c.*287T>C MANE Select	NP_001020560.1:n.*287T>C
ENST00000396553.7:c.*287T>C MANE Select	ENSP00000379801.2:n.*287T>C
NM_000480.2:c.*287T>C	NP_000471.1:n.*287T>C
NM_000480.3:c.*287T>C	NP_000471.1:n.*287T>C
NM_001025389.1:c.*287T>C	NP_001020560.1:n.*287T>C
NM_001025390.1:c.*287T>C	NP_001020561.1:n.*287T>C
NM_001025390.2:c.*287T>C	NP_001020561.1:n.*287T>C
NM_001172430.1:c.*287T>C	NP_001165901.1:n.*287T>C
NM_001172431.1:c.*287T>C	NP_001165902.1:n.*287T>C
NM_001172431.2:c.*287T>C	NP_001165902.1:n.*287T>C
ENST00000396553.6:c.*287T>C	ENSP00000379801.2:n.*287T>C
ENST00000396554.7:c.*287T>C	ENSP00000379802.3:n.*287T>C
ENST00000444303.6:c.*287T>C	ENSP00000396000.2:n.*287T>C
ENST00000529507.5:c.*287T>C	ENSP00000431648.1:n.*287T>C