Canonical Allele Identifier: CA1019923
Gene: AMPD1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114673283A>G , CM000663.2:g.114673283A>G GRCh38
NC_000001.10:g.115215904A>G , CM000663.1:g.115215904A>G GRCh37
NC_000001.9:g.115017427A>G NCBI36
NG_008012.1:g.27273T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.2074-11T>C ENSP00000358551.4:n.2074-11T>C
ENST00000520113.7:c.2086-11T>C MANE Select ENSP00000430075.3:n.2086-11T>C
ENST00000637080.1:c.1869-11T>C ENSP00000489753.1:n.1869-11T>C
ENST00000638214.1:n.1199-11T>C
ENST00000639077.1:n.1608-11T>C
ENST00000639274.1:n.716-11T>C
ENST00000369538.3:c.2173-11T>C ENSP00000358551.3:n.2173-11T>C
ENST00000520113.6:c.2185-11T>C ENSP00000430075.2:n.2185-11T>C
NM_000036.2:c.2185-11T>C NP_000027.2:n.2185-11T>C
NM_001172626.1:c.2173-11T>C NP_001166097.1:n.2173-11T>C
NM_000036.3:c.2086-11T>C MANE Select NP_000027.3:n.2086-11T>C
NM_001172626.2:c.2074-11T>C NP_001166097.2:n.2074-11T>C