Canonical Allele Identifier: CA359226156

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13866230A>G , CM000667.2:g.13866230A>G	GRCh38
NC_000005.9:g.13866339A>G , CM000667.1:g.13866339A>G	GRCh37
NC_000005.8:g.13919339A>G	NCBI36
NG_013081.1:g.83251T>C
NG_013081.2:g.83251T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.4106T>C MANE Select	NP_001360.1:p.Ile1369Thr
ENST00000265104.5:c.4106T>C MANE Select	ENSP00000265104.4:p.Ile1369Thr
NM_001369.2:c.4106T>C	NP_001360.1:p.Ile1369Thr
ENST00000265104.4:c.4106T>C	ENSP00000265104.4:p.Ile1369Thr
ENST00000681290.1:c.4061T>C	ENSP00000505288.1:p.Ile1354Thr
XM_005248262.2:c.4061T>C	XP_005248319.1:p.Ile1354Thr
XM_005248262.3:c.4214T>C	XP_005248319.2:p.Ile1405Thr
XM_011513990.1:c.4106T>C	XP_011512292.1:p.Ile1369Thr
XM_017009177.1:c.4214T>C	XP_016864666.1:p.Ile1405Thr
XM_017009178.1:c.3119T>C	XP_016864667.1:p.Ile1040Thr
XM_017009179.2:c.3119T>C	XP_016864668.1:p.Ile1040Thr
XM_017009180.1:c.4214T>C	XP_016864669.1:p.Ile1405Thr
XM_017009181.1:c.4214T>C	XP_016864670.1:p.Ile1405Thr
XM_017009182.1:c.4214T>C	XP_016864671.1:p.Ile1405Thr
XM_017009183.1:c.4214T>C	XP_016864672.1:p.Ile1405Thr
XM_017009184.1:c.4214T>C	XP_016864673.1:p.Ile1405Thr
XM_017009187.1:c.4214T>C	XP_016864676.1:p.Ile1405Thr
XM_024454388.1:c.3119T>C	XP_024310156.1:p.Ile1040Thr
XM_024454389.1:c.2708T>C	XP_024310157.1:p.Ile903Thr
XR_001742034.1:n.4231T>C
XR_001742035.1:n.4231T>C
XR_925598.1:n.4313T>C