Canonical Allele Identifier: CA885816877

Gene: AMPD1

Linked Data

• dbSNP Id: rs1274614888
• gnomAD v4: 1-114684424-G-A
• MyVariant Identifiers: chr1:g.115227045G>A (hg19) ; chr1:g.114684424G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684424G>A , CM000663.2:g.114684424G>A	GRCh38
NC_000001.10:g.115227045G>A , CM000663.1:g.115227045G>A	GRCh37
NC_000001.9:g.115028568G>A	NCBI36
NG_008012.1:g.16132C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.370-60C>T	ENSP00000358551.4:n.370-60C>T
ENST00000520113.7:c.382-60C>T MANE Select	ENSP00000430075.3:n.382-60C>T
ENST00000637080.1:c.385-60C>T	ENSP00000489753.1:n.385-60C>T
ENST00000639077.1:n.46+20C>T
ENST00000369538.3:c.469-60C>T	ENSP00000358551.3:n.469-60C>T
ENST00000485564.3:n.256-60C>T
ENST00000520113.6:c.481-60C>T	ENSP00000430075.2:n.481-60C>T
NM_000036.2:c.481-60C>T	NP_000027.2:n.481-60C>T
NM_001172626.1:c.469-60C>T	NP_001166097.1:n.469-60C>T
NM_000036.3:c.382-60C>T MANE Select	NP_000027.3:n.382-60C>T
NM_001172626.2:c.370-60C>T	NP_001166097.2:n.370-60C>T