Canonical Allele Identifier: CA341752638

Gene: AMPD1

Linked Data

• dbSNP Id: rs1244127751
• gnomAD v2: 1-115226911-C-G
• gnomAD v4: 1-114684290-C-G
• MyVariant Identifiers: chr1:g.115226911C>G (hg19) ; chr1:g.114684290C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684290C>G , CM000663.2:g.114684290C>G	GRCh38
NC_000001.10:g.115226911C>G , CM000663.1:g.115226911C>G	GRCh37
NC_000001.9:g.115028434C>G	NCBI36
NG_008012.1:g.16266G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.444G>C	ENSP00000358551.4:p.Gln148His
ENST00000520113.7:c.456G>C MANE Select	ENSP00000430075.3:p.Gln152His
ENST00000637080.1:c.459G>C	ENSP00000489753.1:p.Gln153His
ENST00000639077.1:n.121G>C
ENST00000369538.3:c.543G>C	ENSP00000358551.3:p.Gln181His
ENST00000485564.3:n.330G>C
ENST00000520113.6:c.555G>C	ENSP00000430075.2:p.Gln185His
NM_000036.2:c.555G>C	NP_000027.2:p.Gln185His
NM_001172626.1:c.543G>C	NP_001166097.1:p.Gln181His
NM_000036.3:c.456G>C MANE Select	NP_000027.3:p.Gln152His
NM_001172626.2:c.444G>C	NP_001166097.2:p.Gln148His