Canonical Allele Identifier: CA1190276370

Gene: AMPD1

Linked Data

• dbSNP Id: rs1658027818
• gnomAD v4: 1-114677624-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677624A>G , CM000663.2:g.114677624A>G	GRCh38
NC_000001.10:g.115220245A>G , CM000663.1:g.115220245A>G	GRCh37
NC_000001.9:g.115021768A>G	NCBI36
NG_008012.1:g.22932T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1213-110T>C	ENSP00000358551.4:n.1213-110T>C
ENST00000520113.7:c.1225-110T>C MANE Select	ENSP00000430075.3:n.1225-110T>C
ENST00000637080.1:c.1008-110T>C	ENSP00000489753.1:n.1008-110T>C
ENST00000639077.1:n.890-110T>C
ENST00000369538.3:c.1312-110T>C	ENSP00000358551.3:n.1312-110T>C
ENST00000520113.6:c.1324-110T>C	ENSP00000430075.2:n.1324-110T>C
NM_000036.2:c.1324-110T>C	NP_000027.2:n.1324-110T>C
NM_001172626.1:c.1312-110T>C	NP_001166097.1:n.1312-110T>C
NM_000036.3:c.1225-110T>C MANE Select	NP_000027.3:n.1225-110T>C
NM_001172626.2:c.1213-110T>C	NP_001166097.2:n.1213-110T>C