Canonical Allele Identifier: CA2839553804

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677837C>G , CM000663.2:g.114677837C>G	GRCh38
NC_000001.10:g.115220458C>G , CM000663.1:g.115220458C>G	GRCh37
NC_000001.9:g.115021981C>G	NCBI36
NG_008012.1:g.22719G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+73G>C	ENSP00000358551.4:n.1212+73G>C
ENST00000520113.7:c.1224+73G>C MANE Select	ENSP00000430075.3:n.1224+73G>C
ENST00000637080.1:c.1007+73G>C	ENSP00000489753.1:n.1007+73G>C
ENST00000639077.1:n.889+73G>C
ENST00000369538.3:c.1311+73G>C	ENSP00000358551.3:n.1311+73G>C
ENST00000520113.6:c.1323+73G>C	ENSP00000430075.2:n.1323+73G>C
NM_000036.2:c.1323+73G>C	NP_000027.2:n.1323+73G>C
NM_001172626.1:c.1311+73G>C	NP_001166097.1:n.1311+73G>C
NM_000036.3:c.1224+73G>C MANE Select	NP_000027.3:n.1224+73G>C
NM_001172626.2:c.1212+73G>C	NP_001166097.2:n.1212+73G>C