Canonical Allele Identifier: CA359213962

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13913953G>C (hg19) ; chr5:g.13913844G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13913844G>C , CM000667.2:g.13913844G>C	GRCh38
NC_000005.9:g.13913953G>C , CM000667.1:g.13913953G>C	GRCh37
NC_000005.8:g.13966953G>C	NCBI36
NG_013081.1:g.35637C>G
NG_013081.2:g.35637C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.1491C>G
ENST00000682376.1:n.5664C>G
ENST00000683011.1:n.1374C>G
ENST00000683967.1:n.3800C>G
ENST00000684013.1:n.2095C>G
ENST00000684099.1:n.2091C>G
ENST00000265104.5:c.1435C>G MANE Select	ENSP00000265104.4:p.Arg479Gly
ENST00000680213.1:c.1195C>G	ENSP00000506622.1:p.Arg399Gly
ENST00000681290.1:c.1390C>G	ENSP00000505288.1:p.Arg464Gly
ENST00000265104.4:c.1435C>G	ENSP00000265104.4:p.Arg479Gly
ENST00000508040.1:n.1843C>G
NM_001369.2:c.1435C>G	NP_001360.1:p.Arg479Gly
XM_005248262.2:c.1390C>G	XP_005248319.1:p.Arg464Gly
XM_011513990.1:c.1435C>G	XP_011512292.1:p.Arg479Gly
XR_925598.1:n.1642C>G
XM_005248262.3:c.1543C>G	XP_005248319.2:p.Arg515Gly
XM_017009177.1:c.1543C>G	XP_016864666.1:p.Arg515Gly
XM_017009178.1:c.448C>G	XP_016864667.1:p.Arg150Gly
XM_017009179.2:c.448C>G	XP_016864668.1:p.Arg150Gly
XM_017009180.1:c.1543C>G	XP_016864669.1:p.Arg515Gly
XM_017009181.1:c.1543C>G	XP_016864670.1:p.Arg515Gly
XM_017009182.1:c.1543C>G	XP_016864671.1:p.Arg515Gly
XM_017009183.1:c.1543C>G	XP_016864672.1:p.Arg515Gly
XM_017009184.1:c.1543C>G	XP_016864673.1:p.Arg515Gly
XM_017009187.1:c.1543C>G	XP_016864676.1:p.Arg515Gly
XM_024454388.1:c.448C>G	XP_024310156.1:p.Arg150Gly
XM_024454389.1:c.37C>G	XP_024310157.1:p.Arg13Gly
XR_001742034.1:n.1560C>G
XR_001742035.1:n.1560C>G
NM_001369.3:c.1435C>G MANE Select	NP_001360.1:p.Arg479Gly