Canonical Allele Identifier: CA443251250

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708334A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708225A>C , CM000667.2:g.13708225A>C	GRCh38
NC_000005.9:g.13708334A>C , CM000667.1:g.13708334A>C	GRCh37
NC_000005.8:g.13761334A>C	NCBI36
NG_013081.1:g.241256T>G
NG_013081.2:g.241256T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.569T>G
ENST00000265104.5:c.13236T>G MANE Select	ENSP00000265104.4:p.Thr4412=
ENST00000681290.1:c.13191T>G	ENSP00000505288.1:p.Thr4397=
ENST00000265104.4:c.13236T>G	ENSP00000265104.4:p.Thr4412=
NM_001369.2:c.13236T>G	NP_001360.1:p.Thr4412=
XM_005248262.2:c.13191T>G	XP_005248319.1:p.Thr4397=
XM_005248262.3:c.13344T>G	XP_005248319.2:p.Thr4448=
XM_017009177.1:c.12924T>G	XP_016864666.1:p.Thr4308=
XM_017009178.1:c.12249T>G	XP_016864667.1:p.Thr4083=
XM_017009179.2:c.12249T>G	XP_016864668.1:p.Thr4083=
XM_017009185.1:c.8433T>G	XP_016864674.1:p.Thr2811=
XM_017009186.1:c.7986T>G	XP_016864675.1:p.Thr2662=
XM_017009188.1:c.7323T>G	XP_016864677.1:p.Thr2441=
XM_024454388.1:c.12249T>G	XP_024310156.1:p.Thr4083=
XM_024454389.1:c.11838T>G	XP_024310157.1:p.Thr3946=
NM_001369.3:c.13236T>G MANE Select	NP_001360.1:p.Thr4412=