Canonical Allele Identifier: CA1190277338

Gene: AMPD1

Linked Data

• dbSNP Id: rs1658091909

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679562G>A , CM000663.2:g.114679562G>A	GRCh38
NC_000001.10:g.115222183G>A , CM000663.1:g.115222183G>A	GRCh37
NC_000001.9:g.115023706G>A	NCBI36
NG_008012.1:g.20994C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.885+17C>T	ENSP00000358551.4:n.885+17C>T
ENST00000520113.7:c.897+17C>T MANE Select	ENSP00000430075.3:n.897+17C>T
ENST00000637080.1:c.680+17C>T	ENSP00000489753.1:n.680+17C>T
ENST00000639077.1:n.562+17C>T
ENST00000369538.3:c.984+17C>T	ENSP00000358551.3:n.984+17C>T
ENST00000520113.6:c.996+17C>T	ENSP00000430075.2:n.996+17C>T
NM_000036.2:c.996+17C>T	NP_000027.2:n.996+17C>T
NM_001172626.1:c.984+17C>T	NP_001166097.1:n.984+17C>T
NM_000036.3:c.897+17C>T MANE Select	NP_000027.3:n.897+17C>T
NM_001172626.2:c.885+17C>T	NP_001166097.2:n.885+17C>T