Canonical Allele Identifier: CA443275869

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13919327A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919218A>C , CM000667.2:g.13919218A>C	GRCh38
NC_000005.9:g.13919327A>C , CM000667.1:g.13919327A>C	GRCh37
NC_000005.8:g.13972327A>C	NCBI36
NG_013081.1:g.30263T>G
NG_013081.2:g.30263T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000680213.2:n.989T>G
ENST00000682376.1:n.977T>G
ENST00000682586.1:n.1026T>G
ENST00000683011.1:n.872T>G
ENST00000683967.1:n.1032T>G
ENST00000684013.1:n.1032T>G
ENST00000684099.1:n.1028T>G
ENST00000265104.5:c.933T>G MANE Select	ENSP00000265104.4:p.Ala311=
ENST00000680213.1:c.693T>G	ENSP00000506622.1:p.Ala231=
ENST00000681290.1:c.888T>G	ENSP00000505288.1:p.Ala296=
ENST00000265104.4:c.933T>G	ENSP00000265104.4:p.Ala311=
ENST00000508040.1:n.1341T>G
NM_001369.2:c.933T>G	NP_001360.1:p.Ala311=
XM_005248262.2:c.888T>G	XP_005248319.1:p.Ala296=
XM_011513990.1:c.933T>G	XP_011512292.1:p.Ala311=
XR_925598.1:n.1140T>G
XM_005248262.3:c.1041T>G	XP_005248319.2:p.Ala347=
XM_017009177.1:c.1041T>G	XP_016864666.1:p.Ala347=
XM_017009178.1:c.-55T>G	XP_016864667.1:n.-55T>G
XM_017009180.1:c.1041T>G	XP_016864669.1:p.Ala347=
XM_017009181.1:c.1041T>G	XP_016864670.1:p.Ala347=
XM_017009182.1:c.1041T>G	XP_016864671.1:p.Ala347=
XM_017009183.1:c.1041T>G	XP_016864672.1:p.Ala347=
XM_017009184.1:c.1041T>G	XP_016864673.1:p.Ala347=
XM_017009187.1:c.1041T>G	XP_016864676.1:p.Ala347=
XM_024454388.1:c.-1974T>G	XP_024310156.1:n.-1974T>G
XM_024454389.1:c.-1027T>G	XP_024310157.1:n.-1027T>G
XR_001742034.1:n.1058T>G
XR_001742035.1:n.1058T>G
NM_001369.3:c.933T>G MANE Select	NP_001360.1:p.Ala311=