Canonical Allele Identifier: CA566705596

Gene: DNAH8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38826403T>C , CM000668.2:g.38826403T>C	GRCh38
NC_000006.11:g.38794179T>C , CM000668.1:g.38794179T>C	GRCh37
NC_000006.10:g.38902157T>C	NCBI36
NG_041805.1:g.116063T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001206927.2:c.4083+12T>C MANE Select	NP_001193856.1:n.4083+12T>C
ENST00000327475.11:c.4083+12T>C MANE Select	ENSP00000333363.7:n.4083+12T>C
NM_001206927.1:c.4083+12T>C	NP_001193856.1:n.4083+12T>C
NM_001371.3:c.3432+12T>C	NP_001362.2:n.3432+12T>C
NM_001371.4:c.3432+12T>C	NP_001362.2:n.3432+12T>C
ENST00000327475.10:c.4083+12T>C	ENSP00000333363.7:n.4083+12T>C
ENST00000359357.7:c.3432+12T>C	ENSP00000352312.3:n.3432+12T>C
ENST00000449981.6:c.4083+12T>C	ENSP00000415331.2:n.4083+12T>C
XM_011514318.1:c.4083+12T>C	XP_011512620.1:n.4083+12T>C
XM_011514318.2:c.4083+12T>C	XP_011512620.1:n.4083+12T>C
XM_011514319.1:c.4083+12T>C	XP_011512621.1:n.4083+12T>C
XM_011514319.2:c.4083+12T>C	XP_011512621.1:n.4083+12T>C
XM_011514320.1:c.3846+12T>C	XP_011512622.1:n.3846+12T>C
XM_011514320.2:c.3846+12T>C	XP_011512622.1:n.3846+12T>C
XM_011514321.1:c.3432+12T>C	XP_011512623.1:n.3432+12T>C
XM_011514322.1:c.4083+12T>C	XP_011512624.1:n.4083+12T>C
XM_017010325.1:c.4083+12T>C	XP_016865814.1:n.4083+12T>C
XM_017010326.1:c.4083+12T>C	XP_016865815.1:n.4083+12T>C
XM_017010327.1:c.4083+12T>C	XP_016865816.1:n.4083+12T>C
XR_001743188.1:n.4204+12T>C
XR_926078.1:n.4200+12T>C
XR_926078.2:n.4203+12T>C