Canonical Allele Identifier: CA2647248330

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114678073-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114678073A>G , CM000663.2:g.114678073A>G	GRCh38
NC_000001.10:g.115220694A>G , CM000663.1:g.115220694A>G	GRCh37
NC_000001.9:g.115022217A>G	NCBI36
NG_008012.1:g.22483T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1081-32T>C	ENSP00000358551.4:n.1081-32T>C
ENST00000520113.7:c.1093-32T>C MANE Select	ENSP00000430075.3:n.1093-32T>C
ENST00000637080.1:c.876-32T>C	ENSP00000489753.1:n.876-32T>C
ENST00000639077.1:n.758-32T>C
ENST00000369538.3:c.1180-32T>C	ENSP00000358551.3:n.1180-32T>C
ENST00000520113.6:c.1192-32T>C	ENSP00000430075.2:n.1192-32T>C
NM_000036.2:c.1192-32T>C	NP_000027.2:n.1192-32T>C
NM_001172626.1:c.1180-32T>C	NP_001166097.1:n.1180-32T>C
NM_000036.3:c.1093-32T>C MANE Select	NP_000027.3:n.1093-32T>C
NM_001172626.2:c.1081-32T>C	NP_001166097.2:n.1081-32T>C