Canonical Allele Identifier: CA2678595821

Gene: DNAH8

Linked Data

• gnomAD v4: 6-38842580-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38842580C>T , CM000668.2:g.38842580C>T	GRCh38
NC_000006.11:g.38810356C>T , CM000668.1:g.38810356C>T	GRCh37
NC_000006.10:g.38918334C>T	NCBI36
NG_041805.1:g.132240C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000327475.11:c.4604+75C>T MANE Select	ENSP00000333363.7:n.4604+75C>T
ENST00000327475.10:c.4604+75C>T	ENSP00000333363.7:n.4604+75C>T
ENST00000359357.7:c.3953+75C>T	ENSP00000352312.3:n.3953+75C>T
ENST00000449981.6:c.4604+75C>T	ENSP00000415331.2:n.4604+75C>T
NM_001206927.1:c.4604+75C>T	NP_001193856.1:n.4604+75C>T
XM_011514318.1:c.4541+75C>T	XP_011512620.1:n.4541+75C>T
XM_011514319.1:c.4604+75C>T	XP_011512621.1:n.4604+75C>T
XM_011514320.1:c.4367+75C>T	XP_011512622.1:n.4367+75C>T
XM_011514321.1:c.3953+75C>T	XP_011512623.1:n.3953+75C>T
XM_011514322.1:c.4604+75C>T	XP_011512624.1:n.4604+75C>T
XR_926078.1:n.4721+75C>T
NM_001371.3:c.3953+75C>T	NP_001362.2:n.3953+75C>T
XM_011514318.2:c.4541+75C>T	XP_011512620.1:n.4541+75C>T
XM_011514319.2:c.4604+75C>T	XP_011512621.1:n.4604+75C>T
XM_011514320.2:c.4367+75C>T	XP_011512622.1:n.4367+75C>T
XM_017010325.1:c.4604+75C>T	XP_016865814.1:n.4604+75C>T
XM_017010326.1:c.4604+75C>T	XP_016865815.1:n.4604+75C>T
XM_017010327.1:c.4604+75C>T	XP_016865816.1:n.4604+75C>T
XR_001743188.1:n.4725+75C>T
XR_926078.2:n.4724+75C>T
NM_001206927.2:c.4604+75C>T MANE Select	NP_001193856.1:n.4604+75C>T
NM_001371.4:c.3953+75C>T	NP_001362.2:n.3953+75C>T