Canonical Allele Identifier: CA341752669

Gene: AMPD1

Linked Data

• dbSNP Id: rs1658247468
• gnomAD v3: 1-114684298-A-G
• gnomAD v4: 1-114684298-A-G
• MyVariant Identifiers: chr1:g.115226919A>G (hg19) ; chr1:g.114684298A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684298A>G , CM000663.2:g.114684298A>G	GRCh38
NC_000001.10:g.115226919A>G , CM000663.1:g.115226919A>G	GRCh37
NC_000001.9:g.115028442A>G	NCBI36
NG_008012.1:g.16258T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.436T>C	ENSP00000358551.4:p.Tyr146His
ENST00000520113.7:c.448T>C MANE Select	ENSP00000430075.3:p.Tyr150His
ENST00000637080.1:c.451T>C	ENSP00000489753.1:p.Tyr151His
ENST00000639077.1:n.113T>C
ENST00000369538.3:c.535T>C	ENSP00000358551.3:p.Tyr179His
ENST00000485564.3:n.322T>C
ENST00000520113.6:c.547T>C	ENSP00000430075.2:p.Tyr183His
NM_000036.2:c.547T>C	NP_000027.2:p.Tyr183His
NM_001172626.1:c.535T>C	NP_001166097.1:p.Tyr179His
NM_000036.3:c.448T>C MANE Select	NP_000027.3:p.Tyr150His
NM_001172626.2:c.436T>C	NP_001166097.2:p.Tyr146His