Canonical Allele Identifier: CA1190277300

Gene: AMPD1

Linked Data

• dbSNP Id: rs772361373

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679538T>G , CM000663.2:g.114679538T>G	GRCh38
NC_000001.10:g.115222159T>G , CM000663.1:g.115222159T>G	GRCh37
NC_000001.9:g.115023682T>G	NCBI36
NG_008012.1:g.21018A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.885+41A>C	ENSP00000358551.4:n.885+41A>C
ENST00000520113.7:c.897+41A>C MANE Select	ENSP00000430075.3:n.897+41A>C
ENST00000637080.1:c.680+41A>C	ENSP00000489753.1:n.680+41A>C
ENST00000639077.1:n.562+41A>C
ENST00000369538.3:c.984+41A>C	ENSP00000358551.3:n.984+41A>C
ENST00000520113.6:c.996+41A>C	ENSP00000430075.2:n.996+41A>C
NM_000036.2:c.996+41A>C	NP_000027.2:n.996+41A>C
NM_001172626.1:c.984+41A>C	NP_001166097.1:n.984+41A>C
NM_000036.3:c.897+41A>C MANE Select	NP_000027.3:n.897+41A>C
NM_001172626.2:c.885+41A>C	NP_001166097.2:n.885+41A>C