Canonical Allele Identifier: CA419883010

Gene: AMPD1

Linked Data

• dbSNP Id: rs1475428132
• gnomAD v2: 1-115220037-G-C
• gnomAD v4: 1-114677416-G-C
• MyVariant Identifiers: chr1:g.115220037G>C (hg19) ; chr1:g.114677416G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677416G>C , CM000663.2:g.114677416G>C	GRCh38
NC_000001.10:g.115220037G>C , CM000663.1:g.115220037G>C	GRCh37
NC_000001.9:g.115021560G>C	NCBI36
NG_008012.1:g.23140C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1311C>G	ENSP00000358551.4:p.Ser437=
ENST00000520113.7:c.1323C>G MANE Select	ENSP00000430075.3:p.Ser441=
ENST00000637080.1:c.1106C>G	ENSP00000489753.1:n.1106C>G
ENST00000639077.1:n.988C>G
ENST00000369538.3:c.1410C>G	ENSP00000358551.3:p.Ser470=
ENST00000520113.6:c.1422C>G	ENSP00000430075.2:p.Ser474=
NM_000036.2:c.1422C>G	NP_000027.2:p.Ser474=
NM_001172626.1:c.1410C>G	NP_001166097.1:p.Ser470=
NM_000036.3:c.1323C>G MANE Select	NP_000027.3:p.Ser441=
NM_001172626.2:c.1311C>G	NP_001166097.2:p.Ser437=