Canonical Allele Identifier: CA29055428

Gene: AMPD1

Linked Data

• dbSNP Id: rs765669377
• MyVariant Identifiers: chr1:g.114678046A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114678046A>C , CM000663.2:g.114678046A>C	GRCh38
NC_000001.10:g.115220667A>C , CM000663.1:g.115220667A>C	GRCh37
NC_000001.9:g.115022190A>C	NCBI36
NG_008012.1:g.22510T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1081-5T>G	ENSP00000358551.4:n.1081-5T>G
ENST00000520113.7:c.1093-5T>G MANE Select	ENSP00000430075.3:n.1093-5T>G
ENST00000637080.1:c.876-5T>G	ENSP00000489753.1:n.876-5T>G
ENST00000639077.1:n.758-5T>G
ENST00000369538.3:c.1180-5T>G	ENSP00000358551.3:n.1180-5T>G
ENST00000520113.6:c.1192-5T>G	ENSP00000430075.2:n.1192-5T>G
NM_000036.2:c.1192-5T>G	NP_000027.2:n.1192-5T>G
NM_001172626.1:c.1180-5T>G	NP_001166097.1:n.1180-5T>G
NM_000036.3:c.1093-5T>G MANE Select	NP_000027.3:n.1093-5T>G
NM_001172626.2:c.1081-5T>G	NP_001166097.2:n.1081-5T>G