Canonical Allele Identifier: CA359218792

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13919334A>C (hg19) ; chr5:g.13919225A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919225A>C , CM000667.2:g.13919225A>C	GRCh38
NC_000005.9:g.13919334A>C , CM000667.1:g.13919334A>C	GRCh37
NC_000005.8:g.13972334A>C	NCBI36
NG_013081.1:g.30256T>G
NG_013081.2:g.30256T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000680213.2:n.982T>G
ENST00000682376.1:n.970T>G
ENST00000682586.1:n.1019T>G
ENST00000683011.1:n.865T>G
ENST00000683967.1:n.1025T>G
ENST00000684013.1:n.1025T>G
ENST00000684099.1:n.1021T>G
ENST00000265104.5:c.926T>G MANE Select	ENSP00000265104.4:p.Val309Gly
ENST00000680213.1:c.686T>G	ENSP00000506622.1:p.Val229Gly
ENST00000681290.1:c.881T>G	ENSP00000505288.1:p.Val294Gly
ENST00000265104.4:c.926T>G	ENSP00000265104.4:p.Val309Gly
ENST00000508040.1:n.1334T>G
NM_001369.2:c.926T>G	NP_001360.1:p.Val309Gly
XM_005248262.2:c.881T>G	XP_005248319.1:p.Val294Gly
XM_011513990.1:c.926T>G	XP_011512292.1:p.Val309Gly
XR_925598.1:n.1133T>G
XM_005248262.3:c.1034T>G	XP_005248319.2:p.Val345Gly
XM_017009177.1:c.1034T>G	XP_016864666.1:p.Val345Gly
XM_017009178.1:c.-62T>G	XP_016864667.1:n.-62T>G
XM_017009180.1:c.1034T>G	XP_016864669.1:p.Val345Gly
XM_017009181.1:c.1034T>G	XP_016864670.1:p.Val345Gly
XM_017009182.1:c.1034T>G	XP_016864671.1:p.Val345Gly
XM_017009183.1:c.1034T>G	XP_016864672.1:p.Val345Gly
XM_017009184.1:c.1034T>G	XP_016864673.1:p.Val345Gly
XM_017009187.1:c.1034T>G	XP_016864676.1:p.Val345Gly
XM_024454388.1:c.-1981T>G	XP_024310156.1:n.-1981T>G
XM_024454389.1:c.-1034T>G	XP_024310157.1:n.-1034T>G
XR_001742034.1:n.1051T>G
XR_001742035.1:n.1051T>G
NM_001369.3:c.926T>G MANE Select	NP_001360.1:p.Val309Gly