Canonical Allele Identifier: CA419883076
Gene: AMPD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.115220534G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677913G>A , CM000663.2:g.114677913G>A GRCh38
NC_000001.10:g.115220534G>A , CM000663.1:g.115220534G>A GRCh37
NC_000001.9:g.115022057G>A NCBI36
NG_008012.1:g.22643C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1209C>T ENSP00000358551.4:p.Ile403=
ENST00000520113.7:c.1221C>T MANE Select ENSP00000430075.3:p.Ile407=
ENST00000637080.1:c.1004C>T ENSP00000489753.1:n.1004C>T
ENST00000639077.1:n.886C>T
ENST00000369538.3:c.1308C>T ENSP00000358551.3:p.Ile436=
ENST00000520113.6:c.1320C>T ENSP00000430075.2:p.Ile440=
NM_000036.2:c.1320C>T NP_000027.2:p.Ile440=
NM_001172626.1:c.1308C>T NP_001166097.1:p.Ile436=
NM_000036.3:c.1221C>T MANE Select NP_000027.3:p.Ile407=
NM_001172626.2:c.1209C>T NP_001166097.2:p.Ile403=