Canonical Allele Identifier: CA341749183

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220638C>G (hg19) ; chr1:g.114678017C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114678017C>G , CM000663.2:g.114678017C>G	GRCh38
NC_000001.10:g.115220638C>G , CM000663.1:g.115220638C>G	GRCh37
NC_000001.9:g.115022161C>G	NCBI36
NG_008012.1:g.22539G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1105G>C	ENSP00000358551.4:p.Asp369His
ENST00000520113.7:c.1117G>C MANE Select	ENSP00000430075.3:p.Asp373His
ENST00000637080.1:c.900G>C	ENSP00000489753.1:n.900G>C
ENST00000639077.1:n.782G>C
ENST00000369538.3:c.1204G>C	ENSP00000358551.3:p.Asp402His
ENST00000520113.6:c.1216G>C	ENSP00000430075.2:p.Asp406His
NM_000036.2:c.1216G>C	NP_000027.2:p.Asp406His
NM_001172626.1:c.1204G>C	NP_001166097.1:p.Asp402His
NM_000036.3:c.1117G>C MANE Select	NP_000027.3:p.Asp373His
NM_001172626.2:c.1105G>C	NP_001166097.2:p.Asp369His