Canonical Allele Identifier: CA359231481

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2451384
• ClinVar RCV Id: RCV003182400
• MyVariant Identifiers: chr5:g.13870922A>G (hg19) ; chr5:g.13870813A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13870813A>G , CM000667.2:g.13870813A>G	GRCh38
NC_000005.9:g.13870922A>G , CM000667.1:g.13870922A>G	GRCh37
NC_000005.8:g.13923922A>G	NCBI36
NG_013081.1:g.78668T>C
NG_013081.2:g.78668T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3788T>C MANE Select	ENSP00000265104.4:p.Ile1263Thr
ENST00000681290.1:c.3743T>C	ENSP00000505288.1:p.Ile1248Thr
ENST00000265104.4:c.3788T>C	ENSP00000265104.4:p.Ile1263Thr
NM_001369.2:c.3788T>C	NP_001360.1:p.Ile1263Thr
XM_005248262.2:c.3743T>C	XP_005248319.1:p.Ile1248Thr
XM_011513990.1:c.3788T>C	XP_011512292.1:p.Ile1263Thr
XR_925598.1:n.3995T>C
XM_005248262.3:c.3896T>C	XP_005248319.2:p.Ile1299Thr
XM_017009177.1:c.3896T>C	XP_016864666.1:p.Ile1299Thr
XM_017009178.1:c.2801T>C	XP_016864667.1:p.Ile934Thr
XM_017009179.2:c.2801T>C	XP_016864668.1:p.Ile934Thr
XM_017009180.1:c.3896T>C	XP_016864669.1:p.Ile1299Thr
XM_017009181.1:c.3896T>C	XP_016864670.1:p.Ile1299Thr
XM_017009182.1:c.3896T>C	XP_016864671.1:p.Ile1299Thr
XM_017009183.1:c.3896T>C	XP_016864672.1:p.Ile1299Thr
XM_017009184.1:c.3896T>C	XP_016864673.1:p.Ile1299Thr
XM_017009187.1:c.3896T>C	XP_016864676.1:p.Ile1299Thr
XM_024454388.1:c.2801T>C	XP_024310156.1:p.Ile934Thr
XM_024454389.1:c.2390T>C	XP_024310157.1:p.Ile797Thr
XR_001742034.1:n.3913T>C
XR_001742035.1:n.3913T>C
NM_001369.3:c.3788T>C MANE Select	NP_001360.1:p.Ile1263Thr