Canonical Allele Identifier: CA2745133798

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684196T>G , CM000663.2:g.114684196T>G	GRCh38
NC_000001.10:g.115226817T>G , CM000663.1:g.115226817T>G	GRCh37
NC_000001.9:g.115028340T>G	NCBI36
NG_008012.1:g.16360A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.535+3A>C	ENSP00000358551.4:n.535+3A>C
ENST00000520113.7:c.547+3A>C MANE Select	ENSP00000430075.3:n.547+3A>C
ENST00000637080.1:c.550+3A>C	ENSP00000489753.1:n.550+3A>C
ENST00000639077.1:n.212+3A>C
ENST00000369538.3:c.634+3A>C	ENSP00000358551.3:n.634+3A>C
ENST00000485564.3:n.421+3A>C
ENST00000520113.6:c.646+3A>C	ENSP00000430075.2:n.646+3A>C
NM_000036.2:c.646+3A>C	NP_000027.2:n.646+3A>C
NM_001172626.1:c.634+3A>C	NP_001166097.1:n.634+3A>C
NM_000036.3:c.547+3A>C MANE Select	NP_000027.3:n.547+3A>C
NM_001172626.2:c.535+3A>C	NP_001166097.2:n.535+3A>C