Canonical Allele Identifier: CA3790308
Community Standard Title: NM_001206927.2(DNAH8):c.8752A>G (p.Ile2918Val)
Gene: DNAH8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38896037A>G , CM000668.2:g.38896037A>G GRCh38
NC_000006.11:g.38863813A>G , CM000668.1:g.38863813A>G GRCh37
NC_000006.10:g.38971791A>G NCBI36
NG_041805.1:g.185697A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001206927.2:c.8752A>G MANE Select NP_001193856.1:p.Ile2918Val
ENST00000327475.11:c.8752A>G MANE Select ENSP00000333363.7:p.Ile2918Val
NM_001206927.1:c.8752A>G NP_001193856.1:p.Ile2918Val
NM_001371.3:c.8101A>G NP_001362.2:p.Ile2701Val
NM_001371.4:c.8101A>G NP_001362.2:p.Ile2701Val
ENST00000327475.10:c.8752A>G ENSP00000333363.7:p.Ile2918Val
ENST00000359357.7:c.8101A>G ENSP00000352312.3:p.Ile2701Val
ENST00000449981.6:c.8752A>G ENSP00000415331.2:p.Ile2918Val
XM_011514318.1:c.8689A>G XP_011512620.1:p.Ile2897Val
XM_011514318.2:c.8689A>G XP_011512620.1:p.Ile2897Val
XM_011514319.1:c.8644A>G XP_011512621.1:p.Ile2882Val
XM_011514319.2:c.8644A>G XP_011512621.1:p.Ile2882Val
XM_011514320.1:c.8515A>G XP_011512622.1:p.Ile2839Val
XM_011514320.2:c.8515A>G XP_011512622.1:p.Ile2839Val
XM_011514321.1:c.8101A>G XP_011512623.1:p.Ile2701Val
XM_017010325.1:c.8752A>G XP_016865814.1:p.Ile2918Val
XM_017010326.1:c.8752A>G XP_016865815.1:p.Ile2918Val
XR_926078.1:n.8869A>G
XR_926078.2:n.8872A>G