Canonical Allele Identifier: CA1020194

Gene: AMPD1

Linked Data

• dbSNP Id: rs773929610
• ExAC: 1:115220549 A / G
• gnomAD v2: 1-115220549-A-G
• gnomAD v4: 1-114677928-A-G
• MyVariant Identifiers: chr1:g.115220549A>G (hg19) ; chr1:g.114677928A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677928A>G , CM000663.2:g.114677928A>G	GRCh38
NC_000001.10:g.115220549A>G , CM000663.1:g.115220549A>G	GRCh37
NC_000001.9:g.115022072A>G	NCBI36
NG_008012.1:g.22628T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1194T>C	ENSP00000358551.4:p.Tyr398=
ENST00000520113.7:c.1206T>C MANE Select	ENSP00000430075.3:p.Tyr402=
ENST00000637080.1:c.989T>C	ENSP00000489753.1:n.989T>C
ENST00000639077.1:n.871T>C
ENST00000369538.3:c.1293T>C	ENSP00000358551.3:p.Tyr431=
ENST00000520113.6:c.1305T>C	ENSP00000430075.2:p.Tyr435=
NM_000036.2:c.1305T>C	NP_000027.2:p.Tyr435=
NM_001172626.1:c.1293T>C	NP_001166097.1:p.Tyr431=
NM_000036.3:c.1206T>C MANE Select	NP_000027.3:p.Tyr402=
NM_001172626.2:c.1194T>C	NP_001166097.2:p.Tyr398=