Canonical Allele Identifier: CA3790518
Community Standard Title: NM_001206927.2(DNAH8):c.9643A>T (p.Asn3215Tyr)
Gene: DNAH8 HGNC NCBI
DNAH8-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38909647A>T , CM000668.2:g.38909647A>T GRCh38
NC_000006.11:g.38877423A>T , CM000668.1:g.38877423A>T GRCh37
NC_000006.10:g.38985401A>T NCBI36
NG_041805.1:g.199307A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001206927.2:c.9643A>T (DNAH8) MANE Select NP_001193856.1:p.Asn3215Tyr
ENST00000327475.11:c.9643A>T (DNAH8) MANE Select ENSP00000333363.7:p.Asn3215Tyr
NM_001206927.1:c.9643A>T (DNAH8) NP_001193856.1:p.Asn3215Tyr
NM_001371.3:c.8992A>T (DNAH8) NP_001362.2:p.Asn2998Tyr
NM_001371.4:c.8992A>T (DNAH8) NP_001362.2:p.Asn2998Tyr
NR_038401.1:n.783-1810T>A (DNAH8-AS1)
ENST00000327475.10:c.9643A>T (DNAH8) ENSP00000333363.7:p.Asn3215Tyr
ENST00000359357.7:c.8992A>T (DNAH8) ENSP00000352312.3:p.Asn2998Tyr
ENST00000449981.6:c.9643A>T (DNAH8) ENSP00000415331.2:p.Asn3215Tyr
XM_011514318.1:c.9580A>T (DNAH8) XP_011512620.1:p.Asn3194Tyr
XM_011514318.2:c.9580A>T (DNAH8) XP_011512620.1:p.Asn3194Tyr
XM_011514319.1:c.9535A>T (DNAH8) XP_011512621.1:p.Asn3179Tyr
XM_011514319.2:c.9535A>T (DNAH8) XP_011512621.1:p.Asn3179Tyr
XM_011514320.1:c.9406A>T (DNAH8) XP_011512622.1:p.Asn3136Tyr
XM_011514320.2:c.9406A>T (DNAH8) XP_011512622.1:p.Asn3136Tyr
XM_011514321.1:c.8992A>T (DNAH8) XP_011512623.1:p.Asn2998Tyr
XM_017010325.1:c.9643A>T (DNAH8) XP_016865814.1:p.Asn3215Tyr
XM_017010326.1:c.9643A>T (DNAH8) XP_016865815.1:p.Asn3215Tyr
XR_926078.1:n.9760A>T (DNAH8)
XR_926078.2:n.9763A>T (DNAH8)