Canonical Allele Identifier: CA359214065

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13913862A>G , CM000667.2:g.13913862A>G	GRCh38
NC_000005.9:g.13913971A>G , CM000667.1:g.13913971A>G	GRCh37
NC_000005.8:g.13966971A>G	NCBI36
NG_013081.1:g.35619T>C
NG_013081.2:g.35619T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.1417T>C MANE Select	NP_001360.1:p.Phe473Leu
ENST00000265104.5:c.1417T>C MANE Select	ENSP00000265104.4:p.Phe473Leu
NM_001369.2:c.1417T>C	NP_001360.1:p.Phe473Leu
ENST00000265104.4:c.1417T>C	ENSP00000265104.4:p.Phe473Leu
ENST00000508040.1:n.1825T>C
ENST00000680213.1:c.1177T>C	ENSP00000506622.1:p.Phe393Leu
ENST00000680213.2:n.1473T>C
ENST00000681290.1:c.1372T>C	ENSP00000505288.1:p.Phe458Leu
ENST00000682376.1:n.5646T>C
ENST00000683011.1:n.1356T>C
ENST00000683967.1:n.3782T>C
ENST00000684013.1:n.2077T>C
ENST00000684099.1:n.2073T>C
XM_005248262.2:c.1372T>C	XP_005248319.1:p.Phe458Leu
XM_005248262.3:c.1525T>C	XP_005248319.2:p.Phe509Leu
XM_011513990.1:c.1417T>C	XP_011512292.1:p.Phe473Leu
XM_017009177.1:c.1525T>C	XP_016864666.1:p.Phe509Leu
XM_017009178.1:c.430T>C	XP_016864667.1:p.Phe144Leu
XM_017009179.2:c.430T>C	XP_016864668.1:p.Phe144Leu
XM_017009180.1:c.1525T>C	XP_016864669.1:p.Phe509Leu
XM_017009181.1:c.1525T>C	XP_016864670.1:p.Phe509Leu
XM_017009182.1:c.1525T>C	XP_016864671.1:p.Phe509Leu
XM_017009183.1:c.1525T>C	XP_016864672.1:p.Phe509Leu
XM_017009184.1:c.1525T>C	XP_016864673.1:p.Phe509Leu
XM_017009187.1:c.1525T>C	XP_016864676.1:p.Phe509Leu
XM_024454388.1:c.430T>C	XP_024310156.1:p.Phe144Leu
XM_024454389.1:c.19T>C	XP_024310157.1:p.Phe7Leu
XR_001742034.1:n.1542T>C
XR_001742035.1:n.1542T>C
XR_925598.1:n.1624T>C