Canonical Allele Identifier: CA443258092

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13845027C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13844918C>G , CM000667.2:g.13844918C>G	GRCh38
NC_000005.9:g.13845027C>G , CM000667.1:g.13845027C>G	GRCh37
NC_000005.8:g.13898027C>G	NCBI36
NG_013081.1:g.104563G>C
NG_013081.2:g.104563G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5190G>C MANE Select	ENSP00000265104.4:p.Gly1730=
ENST00000681290.1:c.5145G>C	ENSP00000505288.1:p.Gly1715=
ENST00000265104.4:c.5190G>C	ENSP00000265104.4:p.Gly1730=
NM_001369.2:c.5190G>C	NP_001360.1:p.Gly1730=
XM_005248262.2:c.5145G>C	XP_005248319.1:p.Gly1715=
XM_011513990.1:c.5190G>C	XP_011512292.1:p.Gly1730=
XR_925598.1:n.5397G>C
XM_005248262.3:c.5298G>C	XP_005248319.2:p.Gly1766=
XM_017009177.1:c.5298G>C	XP_016864666.1:p.Gly1766=
XM_017009178.1:c.4203G>C	XP_016864667.1:p.Gly1401=
XM_017009179.2:c.4203G>C	XP_016864668.1:p.Gly1401=
XM_017009180.1:c.5298G>C	XP_016864669.1:p.Gly1766=
XM_017009181.1:c.5298G>C	XP_016864670.1:p.Gly1766=
XM_017009182.1:c.5298G>C	XP_016864671.1:p.Gly1766=
XM_017009183.1:c.5298G>C	XP_016864672.1:p.Gly1766=
XM_017009184.1:c.5298G>C	XP_016864673.1:p.Gly1766=
XM_017009185.1:c.387G>C	XP_016864674.1:p.Gly129=
XM_017009186.1:c.22-3014G>C	XP_016864675.1:n.22-3014G>C
XM_017009187.1:c.5298G>C	XP_016864676.1:p.Gly1766=
XM_024454388.1:c.4203G>C	XP_024310156.1:p.Gly1401=
XM_024454389.1:c.3792G>C	XP_024310157.1:p.Gly1264=
XR_001742034.1:n.5315G>C
XR_001742035.1:n.5315G>C
NM_001369.3:c.5190G>C MANE Select	NP_001360.1:p.Gly1730=