Canonical Allele Identifier: CA359213870

Gene: DNAH5

Linked Data

• dbSNP Id: rs1776325518
• MyVariant Identifiers: chr5:g.13913939T>C (hg19) ; chr5:g.13913830T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13913830T>C , CM000667.2:g.13913830T>C	GRCh38
NC_000005.9:g.13913939T>C , CM000667.1:g.13913939T>C	GRCh37
NC_000005.8:g.13966939T>C	NCBI36
NG_013081.1:g.35651A>G
NG_013081.2:g.35651A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.1505A>G
ENST00000682376.1:n.5678A>G
ENST00000683011.1:n.1388A>G
ENST00000683967.1:n.3814A>G
ENST00000684013.1:n.2109A>G
ENST00000684099.1:n.2105A>G
ENST00000265104.5:c.1449A>G MANE Select	ENSP00000265104.4:p.Ile483Met
ENST00000680213.1:c.1209A>G	ENSP00000506622.1:p.Ile403Met
ENST00000681290.1:c.1404A>G	ENSP00000505288.1:p.Ile468Met
ENST00000265104.4:c.1449A>G	ENSP00000265104.4:p.Ile483Met
ENST00000508040.1:n.1857A>G
NM_001369.2:c.1449A>G	NP_001360.1:p.Ile483Met
XM_005248262.2:c.1404A>G	XP_005248319.1:p.Ile468Met
XM_011513990.1:c.1449A>G	XP_011512292.1:p.Ile483Met
XR_925598.1:n.1656A>G
XM_005248262.3:c.1557A>G	XP_005248319.2:p.Ile519Met
XM_017009177.1:c.1557A>G	XP_016864666.1:p.Ile519Met
XM_017009178.1:c.462A>G	XP_016864667.1:p.Ile154Met
XM_017009179.2:c.462A>G	XP_016864668.1:p.Ile154Met
XM_017009180.1:c.1557A>G	XP_016864669.1:p.Ile519Met
XM_017009181.1:c.1557A>G	XP_016864670.1:p.Ile519Met
XM_017009182.1:c.1557A>G	XP_016864671.1:p.Ile519Met
XM_017009183.1:c.1557A>G	XP_016864672.1:p.Ile519Met
XM_017009184.1:c.1557A>G	XP_016864673.1:p.Ile519Met
XM_017009187.1:c.1557A>G	XP_016864676.1:p.Ile519Met
XM_024454388.1:c.462A>G	XP_024310156.1:p.Ile154Met
XM_024454389.1:c.51A>G	XP_024310157.1:p.Ile17Met
XR_001742034.1:n.1574A>G
XR_001742035.1:n.1574A>G
NM_001369.3:c.1449A>G MANE Select	NP_001360.1:p.Ile483Met