Canonical Allele Identifier: CA364003402

Gene: DNAH8

Linked Data

• MyVariant Identifiers: chr6:g.38810450T>C (hg19) ; chr6:g.38842674T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38842674T>C , CM000668.2:g.38842674T>C	GRCh38
NC_000006.11:g.38810450T>C , CM000668.1:g.38810450T>C	GRCh37
NC_000006.10:g.38918428T>C	NCBI36
NG_041805.1:g.132334T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000327475.11:c.4616T>C MANE Select	ENSP00000333363.7:p.Leu1539Pro
ENST00000327475.10:c.4616T>C	ENSP00000333363.7:p.Leu1539Pro
ENST00000359357.7:c.3965T>C	ENSP00000352312.3:p.Leu1322Pro
ENST00000449981.6:c.4616T>C	ENSP00000415331.2:p.Leu1539Pro
NM_001206927.1:c.4616T>C	NP_001193856.1:p.Leu1539Pro
XM_011514318.1:c.4553T>C	XP_011512620.1:p.Leu1518Pro
XM_011514319.1:c.4616T>C	XP_011512621.1:p.Leu1539Pro
XM_011514320.1:c.4379T>C	XP_011512622.1:p.Leu1460Pro
XM_011514321.1:c.3965T>C	XP_011512623.1:p.Leu1322Pro
XM_011514322.1:c.4616T>C	XP_011512624.1:p.Leu1539Pro
XR_926078.1:n.4733T>C
NM_001371.3:c.3965T>C	NP_001362.2:p.Leu1322Pro
XM_011514318.2:c.4553T>C	XP_011512620.1:p.Leu1518Pro
XM_011514319.2:c.4616T>C	XP_011512621.1:p.Leu1539Pro
XM_011514320.2:c.4379T>C	XP_011512622.1:p.Leu1460Pro
XM_017010325.1:c.4616T>C	XP_016865814.1:p.Leu1539Pro
XM_017010326.1:c.4616T>C	XP_016865815.1:p.Leu1539Pro
XM_017010327.1:c.4616T>C	XP_016865816.1:p.Leu1539Pro
XR_001743188.1:n.4737T>C
XR_926078.2:n.4736T>C
NM_001206927.2:c.4616T>C MANE Select	NP_001193856.1:p.Leu1539Pro
NM_001371.4:c.3965T>C	NP_001362.2:p.Leu1322Pro