Canonical Allele Identifier: CA6864548
Community Standard Title: NM_001372106.1(DNAH10):c.7614C>T (p.Pro2538=)
Gene: DNAH10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123870460C>T , CM000674.2:g.123870460C>T GRCh38
NC_000012.11:g.124355007C>T , CM000674.1:g.124355007C>T GRCh37
NC_000012.10:g.122920960C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001372106.1:c.7614C>T MANE Select NP_001359035.1:p.Pro2538=
ENST00000673944.1:c.7614C>T MANE Select ENSP00000501095.1:p.Pro2538=
NM_207437.3:c.7260C>T NP_997320.2:p.Pro2420=
ENST00000409039.7:c.7260C>T ENSP00000386770.3:p.Pro2420=
ENST00000409039.8:c.7443C>T ENSP00000386770.4:p.Pro2481=
ENST00000497783.3:c.2817C>T ENSP00000444761.2:n.2817C>T
ENST00000638045.1:c.7260C>T ENSP00000489675.1:p.Pro2420=
XM_005253555.2:c.7614C>T XP_005253612.1:p.Pro2538=
XM_005253555.3:c.7614C>T XP_005253612.1:p.Pro2538=
XM_011538013.1:c.7614C>T XP_011536315.1:p.Pro2538=
XM_011538014.1:c.7455C>T XP_011536316.1:p.Pro2485=
XM_011538014.2:c.7455C>T XP_011536316.1:p.Pro2485=
XM_011538015.1:c.7425C>T XP_011536317.1:p.Pro2475=
XM_011538015.3:c.7425C>T XP_011536317.1:p.Pro2475=
XM_011538016.1:c.7614C>T XP_011536318.1:p.Pro2538=
XM_011538016.2:c.7614C>T XP_011536318.1:p.Pro2538=
XM_011538017.1:c.7278C>T XP_011536319.1:p.Pro2426=
XM_011538017.3:c.7278C>T XP_011536319.1:p.Pro2426=
XM_011538018.1:c.5130C>T XP_011536320.1:p.Pro1710=
XM_011538019.1:c.4455C>T XP_011536321.1:p.Pro1485=
XM_011538019.2:c.4455C>T XP_011536321.1:p.Pro1485=
XM_011538020.1:c.7614C>T XP_011536322.1:p.Pro2538=
XM_011538020.2:c.7614C>T XP_011536322.1:p.Pro2538=
XM_017018960.1:c.7614C>T XP_016874449.1:p.Pro2538=
XM_017018961.1:c.7305C>T XP_016874450.1:p.Pro2435=
XM_017018962.1:c.4374C>T XP_016874451.1:p.Pro1458=
XM_024448875.1:c.8C>T XP_024304643.1:p.Pro3Leu