Canonical Allele Identifier: CA2647256322
Gene: AMPD1 HGNC NCBI

Linked Data

gnomAD v4: 1-114693463-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114693463T>C , CM000663.2:g.114693463T>C GRCh38
NC_000001.10:g.115236084T>C , CM000663.1:g.115236084T>C GRCh37
NC_000001.9:g.115037607T>C NCBI36
NG_008012.1:g.7093A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.22+1987A>G ENSP00000358551.4:n.22+1987A>G
ENST00000520113.7:c.23-16A>G MANE Select ENSP00000430075.3:n.23-16A>G
ENST00000637080.1:c.37+1974A>G ENSP00000489753.1:n.37+1974A>G
ENST00000369538.3:c.121+1987A>G ENSP00000358551.3:n.121+1987A>G
ENST00000520113.6:c.122-16A>G ENSP00000430075.2:n.122-16A>G
NM_000036.2:c.122-16A>G NP_000027.2:n.122-16A>G
NM_001172626.1:c.121+1987A>G NP_001166097.1:n.121+1987A>G
NM_000036.3:c.23-16A>G MANE Select NP_000027.3:n.23-16A>G
NM_001172626.2:c.22+1987A>G NP_001166097.2:n.22+1987A>G
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