Canonical Allele Identifier: CA359188753

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692226A>T (hg19) ; chr5:g.13692117A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692117A>T , CM000667.2:g.13692117A>T	GRCh38
NC_000005.9:g.13692226A>T , CM000667.1:g.13692226A>T	GRCh37
NC_000005.8:g.13745226A>T	NCBI36
NG_013081.1:g.257364T>A
NG_013081.2:g.257364T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1075T>A
ENST00000265104.5:c.13742T>A MANE Select	ENSP00000265104.4:p.Phe4581Tyr
ENST00000681290.1:c.13697T>A	ENSP00000505288.1:p.Phe4566Tyr
ENST00000265104.4:c.13742T>A	ENSP00000265104.4:p.Phe4581Tyr
NM_001369.2:c.13742T>A	NP_001360.1:p.Phe4581Tyr
XM_005248262.2:c.13697T>A	XP_005248319.1:p.Phe4566Tyr
XM_005248262.3:c.13850T>A	XP_005248319.2:p.Phe4617Tyr
XM_017009177.1:c.13430T>A	XP_016864666.1:p.Phe4477Tyr
XM_017009178.1:c.12755T>A	XP_016864667.1:p.Phe4252Tyr
XM_017009179.2:c.12755T>A	XP_016864668.1:p.Phe4252Tyr
XM_017009185.1:c.8939T>A	XP_016864674.1:p.Phe2980Tyr
XM_017009186.1:c.8492T>A	XP_016864675.1:p.Phe2831Tyr
XM_017009188.1:c.7829T>A	XP_016864677.1:p.Phe2610Tyr
XM_024454388.1:c.12755T>A	XP_024310156.1:p.Phe4252Tyr
XM_024454389.1:c.12344T>A	XP_024310157.1:p.Phe4115Tyr
NM_001369.3:c.13742T>A MANE Select	NP_001360.1:p.Phe4581Tyr