Canonical Allele Identifier: CA341748539

Gene: AMPD1

Linked Data

• dbSNP Id: rs1251963104
• gnomAD v4: 1-114677428-G-T
• MyVariant Identifiers: chr1:g.115220049G>T (hg19) ; chr1:g.114677428G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677428G>T , CM000663.2:g.114677428G>T	GRCh38
NC_000001.10:g.115220049G>T , CM000663.1:g.115220049G>T	GRCh37
NC_000001.9:g.115021572G>T	NCBI36
NG_008012.1:g.23128C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1299C>A	ENSP00000358551.4:p.Ser433Arg
ENST00000520113.7:c.1311C>A MANE Select	ENSP00000430075.3:p.Ser437Arg
ENST00000637080.1:c.1094C>A	ENSP00000489753.1:n.1094C>A
ENST00000639077.1:n.976C>A
ENST00000369538.3:c.1398C>A	ENSP00000358551.3:p.Ser466Arg
ENST00000520113.6:c.1410C>A	ENSP00000430075.2:p.Ser470Arg
NM_000036.2:c.1410C>A	NP_000027.2:p.Ser470Arg
NM_001172626.1:c.1398C>A	NP_001166097.1:p.Ser466Arg
NM_000036.3:c.1311C>A MANE Select	NP_000027.3:p.Ser437Arg
NM_001172626.2:c.1299C>A	NP_001166097.2:p.Ser433Arg