Canonical Allele Identifier: CA341748420

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220013G>C (hg19) ; chr1:g.114677392G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677392G>C , CM000663.2:g.114677392G>C	GRCh38
NC_000001.10:g.115220013G>C , CM000663.1:g.115220013G>C	GRCh37
NC_000001.9:g.115021536G>C	NCBI36
NG_008012.1:g.23164C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1335C>G	ENSP00000358551.4:p.His445Gln
ENST00000520113.7:c.1347C>G MANE Select	ENSP00000430075.3:p.His449Gln
ENST00000637080.1:c.1130C>G	ENSP00000489753.1:n.1130C>G
ENST00000639077.1:n.1012C>G
ENST00000369538.3:c.1434C>G	ENSP00000358551.3:p.His478Gln
ENST00000520113.6:c.1446C>G	ENSP00000430075.2:p.His482Gln
NM_000036.2:c.1446C>G	NP_000027.2:p.His482Gln
NM_001172626.1:c.1434C>G	NP_001166097.1:p.His478Gln
NM_000036.3:c.1347C>G MANE Select	NP_000027.3:p.His449Gln
NM_001172626.2:c.1335C>G	NP_001166097.2:p.His445Gln