Canonical Allele Identifier: CA443251314

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708361T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708252T>A , CM000667.2:g.13708252T>A	GRCh38
NC_000005.9:g.13708361T>A , CM000667.1:g.13708361T>A	GRCh37
NC_000005.8:g.13761361T>A	NCBI36
NG_013081.1:g.241229A>T
NG_013081.2:g.241229A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.542A>T
ENST00000265104.5:c.13209A>T MANE Select	ENSP00000265104.4:p.Val4403=
ENST00000681290.1:c.13164A>T	ENSP00000505288.1:p.Val4388=
ENST00000265104.4:c.13209A>T	ENSP00000265104.4:p.Val4403=
NM_001369.2:c.13209A>T	NP_001360.1:p.Val4403=
XM_005248262.2:c.13164A>T	XP_005248319.1:p.Val4388=
XM_005248262.3:c.13317A>T	XP_005248319.2:p.Val4439=
XM_017009177.1:c.12897A>T	XP_016864666.1:p.Val4299=
XM_017009178.1:c.12222A>T	XP_016864667.1:p.Val4074=
XM_017009179.2:c.12222A>T	XP_016864668.1:p.Val4074=
XM_017009185.1:c.8406A>T	XP_016864674.1:p.Val2802=
XM_017009186.1:c.7959A>T	XP_016864675.1:p.Val2653=
XM_017009188.1:c.7296A>T	XP_016864677.1:p.Val2432=
XM_024454388.1:c.12222A>T	XP_024310156.1:p.Val4074=
XM_024454389.1:c.11811A>T	XP_024310157.1:p.Val3937=
NM_001369.3:c.13209A>T MANE Select	NP_001360.1:p.Val4403=