Canonical Allele Identifier: CA2673277309

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13885945-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13885945T>G , CM000667.2:g.13885945T>G	GRCh38
NC_000005.9:g.13886054T>G , CM000667.1:g.13886054T>G	GRCh37
NC_000005.8:g.13939054T>G	NCBI36
NG_013081.1:g.63536A>C
NG_013081.2:g.63536A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.2743+19A>C MANE Select	ENSP00000265104.4:n.2743+19A>C
ENST00000681290.1:c.2698+19A>C	ENSP00000505288.1:n.2698+19A>C
ENST00000265104.4:c.2743+19A>C	ENSP00000265104.4:n.2743+19A>C
NM_001369.2:c.2743+19A>C	NP_001360.1:n.2743+19A>C
XM_005248262.2:c.2698+19A>C	XP_005248319.1:n.2698+19A>C
XM_011513990.1:c.2743+19A>C	XP_011512292.1:n.2743+19A>C
XR_925598.1:n.2950+19A>C
XM_005248262.3:c.2851+19A>C	XP_005248319.2:n.2851+19A>C
XM_017009177.1:c.2851+19A>C	XP_016864666.1:n.2851+19A>C
XM_017009178.1:c.1756+19A>C	XP_016864667.1:n.1756+19A>C
XM_017009179.2:c.1756+19A>C	XP_016864668.1:n.1756+19A>C
XM_017009180.1:c.2851+19A>C	XP_016864669.1:n.2851+19A>C
XM_017009181.1:c.2851+19A>C	XP_016864670.1:n.2851+19A>C
XM_017009182.1:c.2851+19A>C	XP_016864671.1:n.2851+19A>C
XM_017009183.1:c.2851+19A>C	XP_016864672.1:n.2851+19A>C
XM_017009184.1:c.2851+19A>C	XP_016864673.1:n.2851+19A>C
XM_017009187.1:c.2851+19A>C	XP_016864676.1:n.2851+19A>C
XM_024454388.1:c.1756+19A>C	XP_024310156.1:n.1756+19A>C
XM_024454389.1:c.1345+19A>C	XP_024310157.1:n.1345+19A>C
XR_001742034.1:n.2868+19A>C
XR_001742035.1:n.2868+19A>C
NM_001369.3:c.2743+19A>C MANE Select	NP_001360.1:n.2743+19A>C