Canonical Allele Identifier: CA359224604

Gene: DNAH5

Linked Data

• COSMIC: COSM5437694
• MyVariant Identifiers: chr5:g.13735949A>C (hg19) ; chr5:g.13735840A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735840A>C , CM000667.2:g.13735840A>C	GRCh38
NC_000005.9:g.13735949A>C , CM000667.1:g.13735949A>C	GRCh37
NC_000005.8:g.13788949A>C	NCBI36
NG_013081.1:g.213641T>G
NG_013081.2:g.213641T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11548T>G MANE Select	ENSP00000265104.4:p.Leu3850Val
ENST00000681290.1:c.11503T>G	ENSP00000505288.1:p.Leu3835Val
ENST00000265104.4:c.11548T>G	ENSP00000265104.4:p.Leu3850Val
NM_001369.2:c.11548T>G	NP_001360.1:p.Leu3850Val
XM_005248262.2:c.11503T>G	XP_005248319.1:p.Leu3835Val
XM_005248262.3:c.11656T>G	XP_005248319.2:p.Leu3886Val
XM_017009177.1:c.11656T>G	XP_016864666.1:p.Leu3886Val
XM_017009178.1:c.10561T>G	XP_016864667.1:p.Leu3521Val
XM_017009179.2:c.10561T>G	XP_016864668.1:p.Leu3521Val
XM_017009180.1:c.11656T>G	XP_016864669.1:p.Leu3886Val
XM_017009181.1:c.11656T>G	XP_016864670.1:p.Leu3886Val
XM_017009182.1:c.11412T>G	XP_016864671.1:p.Ala3804=
XM_017009185.1:c.6745T>G	XP_016864674.1:p.Leu2249Val
XM_017009186.1:c.6298T>G	XP_016864675.1:p.Leu2100Val
XM_017009188.1:c.5635T>G	XP_016864677.1:p.Leu1879Val
XM_024454388.1:c.10561T>G	XP_024310156.1:p.Leu3521Val
XM_024454389.1:c.10150T>G	XP_024310157.1:p.Leu3384Val
NM_001369.3:c.11548T>G MANE Select	NP_001360.1:p.Leu3850Val