Canonical Allele Identifier: CA359190267

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13752343A>T (hg19) ; chr5:g.13752234A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752234A>T , CM000667.2:g.13752234A>T	GRCh38
NC_000005.9:g.13752343A>T , CM000667.1:g.13752343A>T	GRCh37
NC_000005.8:g.13805343A>T	NCBI36
NG_013081.1:g.197247T>A
NG_013081.2:g.197247T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10928T>A MANE Select	ENSP00000265104.4:p.Leu3643His
ENST00000681290.1:c.10883T>A	ENSP00000505288.1:p.Leu3628His
ENST00000265104.4:c.10928T>A	ENSP00000265104.4:p.Leu3643His
NM_001369.2:c.10928T>A	NP_001360.1:p.Leu3643His
XM_005248262.2:c.10883T>A	XP_005248319.1:p.Leu3628His
XM_005248262.3:c.11036T>A	XP_005248319.2:p.Leu3679His
XM_017009177.1:c.11036T>A	XP_016864666.1:p.Leu3679His
XM_017009178.1:c.9941T>A	XP_016864667.1:p.Leu3314His
XM_017009179.2:c.9941T>A	XP_016864668.1:p.Leu3314His
XM_017009180.1:c.11036T>A	XP_016864669.1:p.Leu3679His
XM_017009181.1:c.11036T>A	XP_016864670.1:p.Leu3679His
XM_017009182.1:c.11036T>A	XP_016864671.1:p.Leu3679His
XM_017009185.1:c.6125T>A	XP_016864674.1:p.Leu2042His
XM_017009186.1:c.5678T>A	XP_016864675.1:p.Leu1893His
XM_017009188.1:c.5015T>A	XP_016864677.1:p.Leu1672His
XM_024454388.1:c.9941T>A	XP_024310156.1:p.Leu3314His
XM_024454389.1:c.9530T>A	XP_024310157.1:p.Leu3177His
NM_001369.3:c.10928T>A MANE Select	NP_001360.1:p.Leu3643His