Canonical Allele Identifier: CA1020448

Gene: AMPD1

Linked Data

• dbSNP Id: rs749626238
• ExAC: 1:115227013 C / T
• gnomAD v2: 1-115227013-C-T
• gnomAD v3: 1-114684392-C-T
• gnomAD v4: 1-114684392-C-T
• MyVariant Identifiers: chr1:g.115227013C>T (hg19) ; chr1:g.114684392C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684392C>T , CM000663.2:g.114684392C>T	GRCh38
NC_000001.10:g.115227013C>T , CM000663.1:g.115227013C>T	GRCh37
NC_000001.9:g.115028536C>T	NCBI36
NG_008012.1:g.16164G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.370-28G>A	ENSP00000358551.4:n.370-28G>A
ENST00000520113.7:c.382-28G>A MANE Select	ENSP00000430075.3:n.382-28G>A
ENST00000637080.1:c.385-28G>A	ENSP00000489753.1:n.385-28G>A
ENST00000639077.1:n.47-28G>A
ENST00000369538.3:c.469-28G>A	ENSP00000358551.3:n.469-28G>A
ENST00000485564.3:n.256-28G>A
ENST00000520113.6:c.481-28G>A	ENSP00000430075.2:n.481-28G>A
NM_000036.2:c.481-28G>A	NP_000027.2:n.481-28G>A
NM_001172626.1:c.469-28G>A	NP_001166097.1:n.469-28G>A
NM_000036.3:c.382-28G>A MANE Select	NP_000027.3:n.382-28G>A
NM_001172626.2:c.370-28G>A	NP_001166097.2:n.370-28G>A