Canonical Allele Identifier: CA359198930

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13891099G>T (hg19) ; chr5:g.13890990G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13890990G>T , CM000667.2:g.13890990G>T	GRCh38
NC_000005.9:g.13891099G>T , CM000667.1:g.13891099G>T	GRCh37
NC_000005.8:g.13944099G>T	NCBI36
NG_013081.1:g.58491C>A
NG_013081.2:g.58491C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.2563C>A MANE Select	ENSP00000265104.4:p.Leu855Ile
ENST00000681290.1:c.2518C>A	ENSP00000505288.1:p.Leu840Ile
ENST00000265104.4:c.2563C>A	ENSP00000265104.4:p.Leu855Ile
NM_001369.2:c.2563C>A	NP_001360.1:p.Leu855Ile
XM_005248262.2:c.2518C>A	XP_005248319.1:p.Leu840Ile
XM_011513990.1:c.2563C>A	XP_011512292.1:p.Leu855Ile
XR_925598.1:n.2770C>A
XM_005248262.3:c.2671C>A	XP_005248319.2:p.Leu891Ile
XM_017009177.1:c.2671C>A	XP_016864666.1:p.Leu891Ile
XM_017009178.1:c.1576C>A	XP_016864667.1:p.Leu526Ile
XM_017009179.2:c.1576C>A	XP_016864668.1:p.Leu526Ile
XM_017009180.1:c.2671C>A	XP_016864669.1:p.Leu891Ile
XM_017009181.1:c.2671C>A	XP_016864670.1:p.Leu891Ile
XM_017009182.1:c.2671C>A	XP_016864671.1:p.Leu891Ile
XM_017009183.1:c.2671C>A	XP_016864672.1:p.Leu891Ile
XM_017009184.1:c.2671C>A	XP_016864673.1:p.Leu891Ile
XM_017009187.1:c.2671C>A	XP_016864676.1:p.Leu891Ile
XM_024454388.1:c.1576C>A	XP_024310156.1:p.Leu526Ile
XM_024454389.1:c.1165C>A	XP_024310157.1:p.Leu389Ile
XR_001742034.1:n.2688C>A
XR_001742035.1:n.2688C>A
NM_001369.3:c.2563C>A MANE Select	NP_001360.1:p.Leu855Ile