Canonical Allele Identifier: CA1006003503

Gene: AMPD1

Linked Data

• dbSNP Id: rs1658255265
• gnomAD v3: 1-114684451-C-T
• gnomAD v4: 1-114684451-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684451C>T , CM000663.2:g.114684451C>T	GRCh38
NC_000001.10:g.115227072C>T , CM000663.1:g.115227072C>T	GRCh37
NC_000001.9:g.115028595C>T	NCBI36
NG_008012.1:g.16105G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.370-87G>A	ENSP00000358551.4:n.370-87G>A
ENST00000520113.7:c.382-87G>A MANE Select	ENSP00000430075.3:n.382-87G>A
ENST00000637080.1:c.385-87G>A	ENSP00000489753.1:n.385-87G>A
ENST00000639077.1:n.39G>A
ENST00000369538.3:c.469-87G>A	ENSP00000358551.3:n.469-87G>A
ENST00000485564.3:n.256-87G>A
ENST00000520113.6:c.481-87G>A	ENSP00000430075.2:n.481-87G>A
NM_000036.2:c.481-87G>A	NP_000027.2:n.481-87G>A
NM_001172626.1:c.469-87G>A	NP_001166097.1:n.469-87G>A
NM_000036.3:c.382-87G>A MANE Select	NP_000027.3:n.382-87G>A
NM_001172626.2:c.370-87G>A	NP_001166097.2:n.370-87G>A