Canonical Allele Identifier: CA885812451

Gene: AMPD1

Linked Data

• dbSNP Id: rs1202269949
• gnomAD v3: 1-114677711-G-A
• gnomAD v4: 1-114677711-G-A
• MyVariant Identifiers: chr1:g.115220332G>A (hg19) ; chr1:g.114677711G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677711G>A , CM000663.2:g.114677711G>A	GRCh38
NC_000001.10:g.115220332G>A , CM000663.1:g.115220332G>A	GRCh37
NC_000001.9:g.115021855G>A	NCBI36
NG_008012.1:g.22845C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1213-197C>T	ENSP00000358551.4:n.1213-197C>T
ENST00000520113.7:c.1225-197C>T MANE Select	ENSP00000430075.3:n.1225-197C>T
ENST00000637080.1:c.1008-197C>T	ENSP00000489753.1:n.1008-197C>T
ENST00000639077.1:n.890-197C>T
ENST00000369538.3:c.1312-197C>T	ENSP00000358551.3:n.1312-197C>T
ENST00000520113.6:c.1324-197C>T	ENSP00000430075.2:n.1324-197C>T
NM_000036.2:c.1324-197C>T	NP_000027.2:n.1324-197C>T
NM_001172626.1:c.1312-197C>T	NP_001166097.1:n.1312-197C>T
NM_000036.3:c.1225-197C>T MANE Select	NP_000027.3:n.1225-197C>T
NM_001172626.2:c.1213-197C>T	NP_001166097.2:n.1213-197C>T