Canonical Allele Identifier: CA359211529

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13841890A>T (hg19) ; chr5:g.13841781A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841781A>T , CM000667.2:g.13841781A>T	GRCh38
NC_000005.9:g.13841890A>T , CM000667.1:g.13841890A>T	GRCh37
NC_000005.8:g.13894890A>T	NCBI36
NG_013081.1:g.107700T>A
NG_013081.2:g.107700T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5395T>A MANE Select	ENSP00000265104.4:p.Ser1799Thr
ENST00000681290.1:c.5350T>A	ENSP00000505288.1:p.Ser1784Thr
ENST00000265104.4:c.5395T>A	ENSP00000265104.4:p.Ser1799Thr
NM_001369.2:c.5395T>A	NP_001360.1:p.Ser1799Thr
XM_005248262.2:c.5350T>A	XP_005248319.1:p.Ser1784Thr
XM_011513990.1:c.5395T>A	XP_011512292.1:p.Ser1799Thr
XR_925598.1:n.5602T>A
XM_005248262.3:c.5503T>A	XP_005248319.2:p.Ser1835Thr
XM_017009177.1:c.5503T>A	XP_016864666.1:p.Ser1835Thr
XM_017009178.1:c.4408T>A	XP_016864667.1:p.Ser1470Thr
XM_017009179.2:c.4408T>A	XP_016864668.1:p.Ser1470Thr
XM_017009180.1:c.5503T>A	XP_016864669.1:p.Ser1835Thr
XM_017009181.1:c.5503T>A	XP_016864670.1:p.Ser1835Thr
XM_017009182.1:c.5503T>A	XP_016864671.1:p.Ser1835Thr
XM_017009183.1:c.5503T>A	XP_016864672.1:p.Ser1835Thr
XM_017009184.1:c.5503T>A	XP_016864673.1:p.Ser1835Thr
XM_017009185.1:c.592T>A	XP_016864674.1:p.Ser198Thr
XM_017009186.1:c.145T>A	XP_016864675.1:p.Ser49Thr
XM_017009187.1:c.5503T>A	XP_016864676.1:p.Ser1835Thr
XM_024454388.1:c.4408T>A	XP_024310156.1:p.Ser1470Thr
XM_024454389.1:c.3997T>A	XP_024310157.1:p.Ser1333Thr
XR_001742034.1:n.5520T>A
XR_001742035.1:n.5520T>A
NM_001369.3:c.5395T>A MANE Select	NP_001360.1:p.Ser1799Thr