Canonical Allele Identifier: CA1020293

Gene: AMPD1

Linked Data

• dbSNP Id: rs145030449
• ExAC: 1:115222254 G / A
• gnomAD v2: 1-115222254-G-A
• gnomAD v3: 1-114679633-G-A
• gnomAD v4: 1-114679633-G-A
• MyVariant Identifiers: chr1:g.115222254G>A (hg19) ; chr1:g.114679633G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679633G>A , CM000663.2:g.114679633G>A	GRCh38
NC_000001.10:g.115222254G>A , CM000663.1:g.115222254G>A	GRCh37
NC_000001.9:g.115023777G>A	NCBI36
NG_008012.1:g.20923C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.831C>T	ENSP00000358551.4:p.Asp277=
ENST00000520113.7:c.843C>T MANE Select	ENSP00000430075.3:p.Asp281=
ENST00000637080.1:c.626C>T	ENSP00000489753.1:n.626C>T
ENST00000639077.1:n.508C>T
ENST00000369538.3:c.930C>T	ENSP00000358551.3:p.Asp310=
ENST00000520113.6:c.942C>T	ENSP00000430075.2:p.Asp314=
NM_000036.2:c.942C>T	NP_000027.2:p.Asp314=
NM_001172626.1:c.930C>T	NP_001166097.1:p.Asp310=
NM_000036.3:c.843C>T MANE Select	NP_000027.3:p.Asp281=
NM_001172626.2:c.831C>T	NP_001166097.2:p.Asp277=