Canonical Allele Identifier: CA3788202

Gene: DNAH8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38750534T>C , CM000668.2:g.38750534T>C	GRCh38
NC_000006.11:g.38718310T>C , CM000668.1:g.38718310T>C	GRCh37
NC_000006.10:g.38826288T>C	NCBI36
NG_041805.1:g.40194T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001206927.2:c.1352T>C MANE Select	NP_001193856.1:p.Val451Ala
ENST00000327475.11:c.1352T>C MANE Select	ENSP00000333363.7:p.Val451Ala
NM_001206927.1:c.1352T>C	NP_001193856.1:p.Val451Ala
NM_001371.3:c.701T>C	NP_001362.2:p.Val234Ala
NM_001371.4:c.701T>C	NP_001362.2:p.Val234Ala
ENST00000327475.10:c.1352T>C	ENSP00000333363.7:p.Val451Ala
ENST00000359357.7:c.701T>C	ENSP00000352312.3:p.Val234Ala
ENST00000449981.6:c.1352T>C	ENSP00000415331.2:p.Val451Ala
XM_011514318.1:c.1352T>C	XP_011512620.1:p.Val451Ala
XM_011514318.2:c.1352T>C	XP_011512620.1:p.Val451Ala
XM_011514319.1:c.1352T>C	XP_011512621.1:p.Val451Ala
XM_011514319.2:c.1352T>C	XP_011512621.1:p.Val451Ala
XM_011514320.1:c.1115T>C	XP_011512622.1:p.Val372Ala
XM_011514320.2:c.1115T>C	XP_011512622.1:p.Val372Ala
XM_011514321.1:c.701T>C	XP_011512623.1:p.Val234Ala
XM_011514322.1:c.1352T>C	XP_011512624.1:p.Val451Ala
XM_017010325.1:c.1352T>C	XP_016865814.1:p.Val451Ala
XM_017010326.1:c.1352T>C	XP_016865815.1:p.Val451Ala
XM_017010327.1:c.1352T>C	XP_016865816.1:p.Val451Ala
XR_001743188.1:n.1473T>C
XR_926078.1:n.1469T>C
XR_926078.2:n.1472T>C