Canonical Allele Identifier: CA341747231

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114675692A>G , CM000663.2:g.114675692A>G	GRCh38
NC_000001.10:g.115218313A>G , CM000663.1:g.115218313A>G	GRCh37
NC_000001.9:g.115019836A>G	NCBI36
NG_008012.1:g.24864T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000036.3:c.1517T>C MANE Select	NP_000027.3:p.Ile506Thr
ENST00000520113.7:c.1517T>C MANE Select	ENSP00000430075.3:p.Ile506Thr
NM_000036.2:c.1616T>C	NP_000027.2:p.Ile539Thr
NM_001172626.1:c.1604T>C	NP_001166097.1:p.Ile535Thr
NM_001172626.2:c.1505T>C	NP_001166097.2:p.Ile502Thr
ENST00000369538.3:c.1604T>C	ENSP00000358551.3:p.Ile535Thr
ENST00000369538.4:c.1505T>C	ENSP00000358551.4:p.Ile502Thr
ENST00000520113.6:c.1616T>C	ENSP00000430075.2:p.Ile539Thr
ENST00000637080.1:c.1300T>C	ENSP00000489753.1:n.1300T>C
ENST00000638214.1:n.547T>C
ENST00000639077.1:n.1086-47T>C
ENST00000639274.1:n.147T>C