Canonical Allele Identifier: CA885812438

Gene: AMPD1

Linked Data

• dbSNP Id: rs1169361831
• MyVariant Identifiers: chr1:g.115220310A>T (hg19) ; chr1:g.114677689A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677689A>T , CM000663.2:g.114677689A>T	GRCh38
NC_000001.10:g.115220310A>T , CM000663.1:g.115220310A>T	GRCh37
NC_000001.9:g.115021833A>T	NCBI36
NG_008012.1:g.22867T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1213-175T>A	ENSP00000358551.4:n.1213-175T>A
ENST00000520113.7:c.1225-175T>A MANE Select	ENSP00000430075.3:n.1225-175T>A
ENST00000637080.1:c.1008-175T>A	ENSP00000489753.1:n.1008-175T>A
ENST00000639077.1:n.890-175T>A
ENST00000369538.3:c.1312-175T>A	ENSP00000358551.3:n.1312-175T>A
ENST00000520113.6:c.1324-175T>A	ENSP00000430075.2:n.1324-175T>A
NM_000036.2:c.1324-175T>A	NP_000027.2:n.1324-175T>A
NM_001172626.1:c.1312-175T>A	NP_001166097.1:n.1312-175T>A
NM_000036.3:c.1225-175T>A MANE Select	NP_000027.3:n.1225-175T>A
NM_001172626.2:c.1213-175T>A	NP_001166097.2:n.1213-175T>A