Canonical Allele Identifier: CA2908933
Gene: ATP10D HGNC NCBI

Linked Data

dbSNP Id: rs2351791
gnomAD v2: 4-47582387-A-C
gnomAD v3: 4-47580370-A-C
gnomAD v4: 4-47580370-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47580370A>C , CM000666.2:g.47580370A>C GRCh38
NC_000004.11:g.47582387A>C , CM000666.1:g.47582387A>C GRCh37
NC_000004.10:g.47277144A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000273859.8:c.3568-28A>C MANE Select ENSP00000273859.3:n.3568-28A>C
ENST00000273859.7:c.3568-28A>C ENSP00000273859.3:n.3568-28A>C
ENST00000503288.6:c.1923-28A>C
ENST00000505476.5:n.146-28A>C
NM_020453.3:c.3568-28A>C NP_065186.3:n.3568-28A>C
XM_005248119.3:c.3523-28A>C XP_005248176.1:n.3523-28A>C
XM_005248120.3:c.3568-1590A>C XP_005248177.1:n.3568-1590A>C
XM_011513722.1:c.3373-28A>C XP_011512024.1:n.3373-28A>C
XM_011513723.1:c.2092-28A>C XP_011512025.1:n.2092-28A>C
XR_925154.1:n.3854-28A>C
XM_005248119.4:c.3523-28A>C XP_005248176.1:n.3523-28A>C
XM_005248120.4:c.3568-1590A>C XP_005248177.1:n.3568-1590A>C
XM_011513722.2:c.3373-28A>C XP_011512024.1:n.3373-28A>C
XM_017008472.1:c.2092-28A>C XP_016863961.1:n.2092-28A>C
XR_001741295.1:n.3819-28A>C
XR_925154.2:n.3850-28A>C
NM_020453.4:c.3568-28A>C MANE Select NP_065186.3:n.3568-28A>C