Canonical Allele Identifier: CA6865476
Gene: DNAH10 HGNC NCBI

Linked Data

ClinVar Variation Id: 402624
ClinVar RCV Id: RCV000455890
dbSNP Id: rs1316952
ExAC: 12:124399550 T / C
gnomAD v2: 12-124399550-T-C
gnomAD v3: 12-123915003-T-C
gnomAD v4: 12-123915003-T-C
MyVariant Identifiers: chr12:g.124399550T>C (hg19) chr12:g.123915003T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123915003T>C , CM000674.2:g.123915003T>C GRCh38
NC_000012.11:g.124399550T>C , CM000674.1:g.124399550T>C GRCh37
NC_000012.10:g.122965503T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000409039.8:c.10551+4T>C ENSP00000386770.4:n.10551+4T>C
ENST00000638045.1:c.10368+4T>C ENSP00000489675.1:n.10368+4T>C
ENST00000673944.1:c.10722+4T>C MANE Select ENSP00000501095.1:n.10722+4T>C
ENST00000409039.7:c.10368+4T>C ENSP00000386770.3:n.10368+4T>C
NM_207437.3:c.10368+4T>C NP_997320.2:n.10368+4T>C
XM_005253555.2:c.10722+4T>C XP_005253612.1:n.10722+4T>C
XM_011538013.1:c.10713+4T>C XP_011536315.1:n.10713+4T>C
XM_011538014.1:c.10563+4T>C XP_011536316.1:n.10563+4T>C
XM_011538015.1:c.10533+4T>C XP_011536317.1:n.10533+4T>C
XM_011538016.1:c.10533+4T>C XP_011536318.1:n.10533+4T>C
XM_011538017.1:c.10386+4T>C XP_011536319.1:n.10386+4T>C
XM_011538018.1:c.8238+4T>C XP_011536320.1:n.8238+4T>C
XM_011538019.1:c.7563+4T>C XP_011536321.1:n.7563+4T>C
XM_005253555.3:c.10722+4T>C XP_005253612.1:n.10722+4T>C
XM_011538014.2:c.10563+4T>C XP_011536316.1:n.10563+4T>C
XM_011538015.3:c.10533+4T>C XP_011536317.1:n.10533+4T>C
XM_011538016.2:c.10533+4T>C XP_011536318.1:n.10533+4T>C
XM_011538017.3:c.10386+4T>C XP_011536319.1:n.10386+4T>C
XM_011538019.2:c.7563+4T>C XP_011536321.1:n.7563+4T>C
XM_017018960.1:c.10437+4T>C XP_016874449.1:n.10437+4T>C
XM_017018961.1:c.10413+4T>C XP_016874450.1:n.10413+4T>C
XM_017018962.1:c.7482+4T>C XP_016874451.1:n.7482+4T>C
XM_024448875.1:c.2970+4T>C XP_024304643.1:n.2970+4T>C
NM_001372106.1:c.10722+4T>C MANE Select NP_001359035.1:n.10722+4T>C
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