Canonical Allele Identifier: CA11778046
Gene: ATP10D HGNC NCBI

Linked Data

dbSNP Id: rs10938494
gnomAD v2: 4-47563448-G-A
gnomAD v3: 4-47561431-G-A
gnomAD v4: 4-47561431-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47561431G>A , CM000666.2:g.47561431G>A GRCh38
NC_000004.11:g.47563448G>A , CM000666.1:g.47563448G>A GRCh37
NC_000004.10:g.47258205G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000273859.8:c.2668+356G>A MANE Select ENSP00000273859.3:n.2668+356G>A
ENST00000273859.7:c.2668+356G>A ENSP00000273859.3:n.2668+356G>A
ENST00000503288.6:c.1023+356G>A
NM_020453.3:c.2668+356G>A NP_065186.3:n.2668+356G>A
XM_005248119.3:c.2623+356G>A XP_005248176.1:n.2623+356G>A
XM_005248120.3:c.2668+356G>A XP_005248177.1:n.2668+356G>A
XM_011513722.1:c.2473+356G>A XP_011512024.1:n.2473+356G>A
XM_011513723.1:c.1192+356G>A XP_011512025.1:n.1192+356G>A
XR_925154.1:n.2954+356G>A
XM_005248119.4:c.2623+356G>A XP_005248176.1:n.2623+356G>A
XM_005248120.4:c.2668+356G>A XP_005248177.1:n.2668+356G>A
XM_011513722.2:c.2473+356G>A XP_011512024.1:n.2473+356G>A
XM_017008472.1:c.1192+356G>A XP_016863961.1:n.1192+356G>A
XR_001741295.1:n.2919+356G>A
XR_925154.2:n.2950+356G>A
NM_020453.4:c.2668+356G>A MANE Select NP_065186.3:n.2668+356G>A