Canonical Allele Identifier: CA341748449

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677402-T-C
• MyVariant Identifiers: chr1:g.115220023T>C (hg19) ; chr1:g.114677402T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677402T>C , CM000663.2:g.114677402T>C	GRCh38
NC_000001.10:g.115220023T>C , CM000663.1:g.115220023T>C	GRCh37
NC_000001.9:g.115021546T>C	NCBI36
NG_008012.1:g.23154A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1325A>G	ENSP00000358551.4:p.Asn442Ser
ENST00000520113.7:c.1337A>G MANE Select	ENSP00000430075.3:p.Asn446Ser
ENST00000637080.1:c.1120A>G	ENSP00000489753.1:n.1120A>G
ENST00000639077.1:n.1002A>G
ENST00000369538.3:c.1424A>G	ENSP00000358551.3:p.Asn475Ser
ENST00000520113.6:c.1436A>G	ENSP00000430075.2:p.Asn479Ser
NM_000036.2:c.1436A>G	NP_000027.2:p.Asn479Ser
NM_001172626.1:c.1424A>G	NP_001166097.1:p.Asn475Ser
NM_000036.3:c.1337A>G MANE Select	NP_000027.3:p.Asn446Ser
NM_001172626.2:c.1325A>G	NP_001166097.2:p.Asn442Ser