Canonical Allele Identifier: CA1019945

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114673688A>G , CM000663.2:g.114673688A>G	GRCh38
NC_000001.10:g.115216309A>G , CM000663.1:g.115216309A>G	GRCh37
NC_000001.9:g.115017832A>G	NCBI36
NG_008012.1:g.26868T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.2024T>C	ENSP00000358551.4:p.Met675Thr
ENST00000520113.7:c.2036T>C MANE Select	ENSP00000430075.3:p.Met679Thr
ENST00000637080.1:c.1819T>C	ENSP00000489753.1:n.1819T>C
ENST00000638214.1:n.1149T>C
ENST00000639077.1:n.1558T>C
ENST00000639274.1:n.666T>C
ENST00000369538.3:c.2123T>C	ENSP00000358551.3:p.Met708Thr
ENST00000520113.6:c.2135T>C	ENSP00000430075.2:p.Met712Thr
NM_000036.2:c.2135T>C	NP_000027.2:p.Met712Thr
NM_001172626.1:c.2123T>C	NP_001166097.1:p.Met708Thr
NM_000036.3:c.2036T>C MANE Select	NP_000027.3:p.Met679Thr
NM_001172626.2:c.2024T>C	NP_001166097.2:p.Met675Thr