Canonical Allele Identifier: CA341752327

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114684216-T-C
• MyVariant Identifiers: chr1:g.115226837T>C (hg19) ; chr1:g.114684216T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684216T>C , CM000663.2:g.114684216T>C	GRCh38
NC_000001.10:g.115226837T>C , CM000663.1:g.115226837T>C	GRCh37
NC_000001.9:g.115028360T>C	NCBI36
NG_008012.1:g.16340A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.518A>G	ENSP00000358551.4:p.Asn173Ser
ENST00000520113.7:c.530A>G MANE Select	ENSP00000430075.3:p.Asn177Ser
ENST00000637080.1:c.533A>G	ENSP00000489753.1:p.Asn178Ser
ENST00000639077.1:n.195A>G
ENST00000369538.3:c.617A>G	ENSP00000358551.3:p.Asn206Ser
ENST00000485564.3:n.404A>G
ENST00000520113.6:c.629A>G	ENSP00000430075.2:p.Asn210Ser
NM_000036.2:c.629A>G	NP_000027.2:p.Asn210Ser
NM_001172626.1:c.617A>G	NP_001166097.1:p.Asn206Ser
NM_000036.3:c.530A>G MANE Select	NP_000027.3:p.Asn177Ser
NM_001172626.2:c.518A>G	NP_001166097.2:p.Asn173Ser