Canonical Allele Identifier: CA443250517

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13701402T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701293T>A , CM000667.2:g.13701293T>A	GRCh38
NC_000005.9:g.13701402T>A , CM000667.1:g.13701402T>A	GRCh37
NC_000005.8:g.13754402T>A	NCBI36
NG_013081.1:g.248188A>T
NG_013081.2:g.248188A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.815A>T
ENST00000265104.5:c.13482A>T MANE Select	ENSP00000265104.4:p.Ala4494=
ENST00000681290.1:c.13437A>T	ENSP00000505288.1:p.Ala4479=
ENST00000265104.4:c.13482A>T	ENSP00000265104.4:p.Ala4494=
NM_001369.2:c.13482A>T	NP_001360.1:p.Ala4494=
XM_005248262.2:c.13437A>T	XP_005248319.1:p.Ala4479=
XM_005248262.3:c.13590A>T	XP_005248319.2:p.Ala4530=
XM_017009177.1:c.13170A>T	XP_016864666.1:p.Ala4390=
XM_017009178.1:c.12495A>T	XP_016864667.1:p.Ala4165=
XM_017009179.2:c.12495A>T	XP_016864668.1:p.Ala4165=
XM_017009185.1:c.8679A>T	XP_016864674.1:p.Ala2893=
XM_017009186.1:c.8232A>T	XP_016864675.1:p.Ala2744=
XM_017009188.1:c.7569A>T	XP_016864677.1:p.Ala2523=
XM_024454388.1:c.12495A>T	XP_024310156.1:p.Ala4165=
XM_024454389.1:c.12084A>T	XP_024310157.1:p.Ala4028=
NM_001369.3:c.13482A>T MANE Select	NP_001360.1:p.Ala4494=