Canonical Allele Identifier: CA359218763

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13919328G>C (hg19) ; chr5:g.13919219G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919219G>C , CM000667.2:g.13919219G>C	GRCh38
NC_000005.9:g.13919328G>C , CM000667.1:g.13919328G>C	GRCh37
NC_000005.8:g.13972328G>C	NCBI36
NG_013081.1:g.30262C>G
NG_013081.2:g.30262C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.988C>G
ENST00000682376.1:n.976C>G
ENST00000682586.1:n.1025C>G
ENST00000683011.1:n.871C>G
ENST00000683967.1:n.1031C>G
ENST00000684013.1:n.1031C>G
ENST00000684099.1:n.1027C>G
ENST00000265104.5:c.932C>G MANE Select	ENSP00000265104.4:p.Ala311Gly
ENST00000680213.1:c.692C>G	ENSP00000506622.1:p.Ala231Gly
ENST00000681290.1:c.887C>G	ENSP00000505288.1:p.Ala296Gly
ENST00000265104.4:c.932C>G	ENSP00000265104.4:p.Ala311Gly
ENST00000508040.1:n.1340C>G
NM_001369.2:c.932C>G	NP_001360.1:p.Ala311Gly
XM_005248262.2:c.887C>G	XP_005248319.1:p.Ala296Gly
XM_011513990.1:c.932C>G	XP_011512292.1:p.Ala311Gly
XR_925598.1:n.1139C>G
XM_005248262.3:c.1040C>G	XP_005248319.2:p.Ala347Gly
XM_017009177.1:c.1040C>G	XP_016864666.1:p.Ala347Gly
XM_017009178.1:c.-56C>G	XP_016864667.1:n.-56C>G
XM_017009180.1:c.1040C>G	XP_016864669.1:p.Ala347Gly
XM_017009181.1:c.1040C>G	XP_016864670.1:p.Ala347Gly
XM_017009182.1:c.1040C>G	XP_016864671.1:p.Ala347Gly
XM_017009183.1:c.1040C>G	XP_016864672.1:p.Ala347Gly
XM_017009184.1:c.1040C>G	XP_016864673.1:p.Ala347Gly
XM_017009187.1:c.1040C>G	XP_016864676.1:p.Ala347Gly
XM_024454388.1:c.-1975C>G	XP_024310156.1:n.-1975C>G
XM_024454389.1:c.-1028C>G	XP_024310157.1:n.-1028C>G
XR_001742034.1:n.1057C>G
XR_001742035.1:n.1057C>G
NM_001369.3:c.932C>G MANE Select	NP_001360.1:p.Ala311Gly