Canonical Allele Identifier: CA359193036

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13817628C>G , CM000667.2:g.13817628C>G	GRCh38
NC_000005.9:g.13817737C>G , CM000667.1:g.13817737C>G	GRCh37
NC_000005.8:g.13870737C>G	NCBI36
NG_013081.1:g.131853G>C
NG_013081.2:g.131853G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.6908G>C MANE Select	NP_001360.1:p.Gly2303Ala
ENST00000265104.5:c.6908G>C MANE Select	ENSP00000265104.4:p.Gly2303Ala
NM_001369.2:c.6908G>C	NP_001360.1:p.Gly2303Ala
ENST00000265104.4:c.6908G>C	ENSP00000265104.4:p.Gly2303Ala
ENST00000681290.1:c.6863G>C	ENSP00000505288.1:p.Gly2288Ala
ENST00000683090.1:n.1839G>C
XM_005248262.2:c.6863G>C	XP_005248319.1:p.Gly2288Ala
XM_005248262.3:c.7016G>C	XP_005248319.2:p.Gly2339Ala
XM_011513990.1:c.6908G>C	XP_011512292.1:p.Gly2303Ala
XM_017009177.1:c.7016G>C	XP_016864666.1:p.Gly2339Ala
XM_017009178.1:c.5921G>C	XP_016864667.1:p.Gly1974Ala
XM_017009179.2:c.5921G>C	XP_016864668.1:p.Gly1974Ala
XM_017009180.1:c.7016G>C	XP_016864669.1:p.Gly2339Ala
XM_017009181.1:c.7016G>C	XP_016864670.1:p.Gly2339Ala
XM_017009182.1:c.7016G>C	XP_016864671.1:p.Gly2339Ala
XM_017009183.1:c.7016G>C	XP_016864672.1:p.Gly2339Ala
XM_017009184.1:c.7016G>C	XP_016864673.1:p.Gly2339Ala
XM_017009185.1:c.2105G>C	XP_016864674.1:p.Gly702Ala
XM_017009186.1:c.1658G>C	XP_016864675.1:p.Gly553Ala
XM_017009187.1:c.7016G>C	XP_016864676.1:p.Gly2339Ala
XM_017009188.1:c.995G>C	XP_016864677.1:p.Gly332Ala
XM_024454388.1:c.5921G>C	XP_024310156.1:p.Gly1974Ala
XM_024454389.1:c.5510G>C	XP_024310157.1:p.Gly1837Ala
XR_001742034.1:n.7033G>C
XR_001742035.1:n.7033G>C
XR_925598.1:n.7115G>C