Canonical Allele Identifier: CA443535767

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2738781
• ClinVar RCV Id: RCV003535303
• MyVariant Identifiers: chr5:g.13753504A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753395A>T , CM000667.2:g.13753395A>T	GRCh38
NC_000005.9:g.13753504A>T , CM000667.1:g.13753504A>T	GRCh37
NC_000005.8:g.13806504A>T	NCBI36
NG_013081.1:g.196086T>A
NG_013081.2:g.196086T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10710T>A MANE Select	ENSP00000265104.4:p.Ala3570=
ENST00000681290.1:c.10665T>A	ENSP00000505288.1:p.Ala3555=
ENST00000265104.4:c.10710T>A	ENSP00000265104.4:p.Ala3570=
NM_001369.2:c.10710T>A	NP_001360.1:p.Ala3570=
XM_005248262.2:c.10665T>A	XP_005248319.1:p.Ala3555=
XM_005248262.3:c.10818T>A	XP_005248319.2:p.Ala3606=
XM_017009177.1:c.10818T>A	XP_016864666.1:p.Ala3606=
XM_017009178.1:c.9723T>A	XP_016864667.1:p.Ala3241=
XM_017009179.2:c.9723T>A	XP_016864668.1:p.Ala3241=
XM_017009180.1:c.10818T>A	XP_016864669.1:p.Ala3606=
XM_017009181.1:c.10818T>A	XP_016864670.1:p.Ala3606=
XM_017009182.1:c.10818T>A	XP_016864671.1:p.Ala3606=
XM_017009185.1:c.5907T>A	XP_016864674.1:p.Ala1969=
XM_017009186.1:c.5460T>A	XP_016864675.1:p.Ala1820=
XM_017009188.1:c.4797T>A	XP_016864677.1:p.Ala1599=
XM_024454388.1:c.9723T>A	XP_024310156.1:p.Ala3241=
XM_024454389.1:c.9312T>A	XP_024310157.1:p.Ala3104=
NM_001369.3:c.10710T>A MANE Select	NP_001360.1:p.Ala3570=