Canonical Allele Identifier: CA419883109

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677979-A-G
• MyVariant Identifiers: chr1:g.115220600A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677979A>G , CM000663.2:g.114677979A>G	GRCh38
NC_000001.10:g.115220600A>G , CM000663.1:g.115220600A>G	GRCh37
NC_000001.9:g.115022123A>G	NCBI36
NG_008012.1:g.22577T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1143T>C	ENSP00000358551.4:p.Ser381=
ENST00000520113.7:c.1155T>C MANE Select	ENSP00000430075.3:p.Ser385=
ENST00000637080.1:c.938T>C	ENSP00000489753.1:n.938T>C
ENST00000639077.1:n.820T>C
ENST00000369538.3:c.1242T>C	ENSP00000358551.3:p.Ser414=
ENST00000520113.6:c.1254T>C	ENSP00000430075.2:p.Ser418=
NM_000036.2:c.1254T>C	NP_000027.2:p.Ser418=
NM_001172626.1:c.1242T>C	NP_001166097.1:p.Ser414=
NM_000036.3:c.1155T>C MANE Select	NP_000027.3:p.Ser385=
NM_001172626.2:c.1143T>C	NP_001166097.2:p.Ser381=