Canonical Allele Identifier: CA450134071
Gene: DNAH8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.38810445T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38842669T>G , CM000668.2:g.38842669T>G GRCh38
NC_000006.11:g.38810445T>G , CM000668.1:g.38810445T>G GRCh37
NC_000006.10:g.38918423T>G NCBI36
NG_041805.1:g.132329T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000327475.11:c.4611T>G MANE Select ENSP00000333363.7:p.Arg1537=
ENST00000327475.10:c.4611T>G ENSP00000333363.7:p.Arg1537=
ENST00000359357.7:c.3960T>G ENSP00000352312.3:p.Arg1320=
ENST00000449981.6:c.4611T>G ENSP00000415331.2:p.Arg1537=
NM_001206927.1:c.4611T>G NP_001193856.1:p.Arg1537=
XM_011514318.1:c.4548T>G XP_011512620.1:p.Arg1516=
XM_011514319.1:c.4611T>G XP_011512621.1:p.Arg1537=
XM_011514320.1:c.4374T>G XP_011512622.1:p.Arg1458=
XM_011514321.1:c.3960T>G XP_011512623.1:p.Arg1320=
XM_011514322.1:c.4611T>G XP_011512624.1:p.Arg1537=
XR_926078.1:n.4728T>G
NM_001371.3:c.3960T>G NP_001362.2:p.Arg1320=
XM_011514318.2:c.4548T>G XP_011512620.1:p.Arg1516=
XM_011514319.2:c.4611T>G XP_011512621.1:p.Arg1537=
XM_011514320.2:c.4374T>G XP_011512622.1:p.Arg1458=
XM_017010325.1:c.4611T>G XP_016865814.1:p.Arg1537=
XM_017010326.1:c.4611T>G XP_016865815.1:p.Arg1537=
XM_017010327.1:c.4611T>G XP_016865816.1:p.Arg1537=
XR_001743188.1:n.4732T>G
XR_926078.2:n.4731T>G
NM_001206927.2:c.4611T>G MANE Select NP_001193856.1:p.Arg1537=
NM_001371.4:c.3960T>G NP_001362.2:p.Arg1320=