Canonical Allele Identifier: CA2673274275
Gene: DNAH5 HGNC NCBI

Linked Data

gnomAD v4: 5-13841581-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13841581A>T , CM000667.2:g.13841581A>T GRCh38
NC_000005.9:g.13841690A>T , CM000667.1:g.13841690A>T GRCh37
NC_000005.8:g.13894690A>T NCBI36
NG_013081.1:g.107900T>A
NG_013081.2:g.107900T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.5484+111T>A MANE Select ENSP00000265104.4:n.5484+111T>A
ENST00000681290.1:c.5439+111T>A ENSP00000505288.1:n.5439+111T>A
ENST00000265104.4:c.5484+111T>A ENSP00000265104.4:n.5484+111T>A
NM_001369.2:c.5484+111T>A NP_001360.1:n.5484+111T>A
XM_005248262.2:c.5439+111T>A XP_005248319.1:n.5439+111T>A
XM_011513990.1:c.5484+111T>A XP_011512292.1:n.5484+111T>A
XR_925598.1:n.5691+111T>A
XM_005248262.3:c.5592+111T>A XP_005248319.2:n.5592+111T>A
XM_017009177.1:c.5592+111T>A XP_016864666.1:n.5592+111T>A
XM_017009178.1:c.4497+111T>A XP_016864667.1:n.4497+111T>A
XM_017009179.2:c.4497+111T>A XP_016864668.1:n.4497+111T>A
XM_017009180.1:c.5592+111T>A XP_016864669.1:n.5592+111T>A
XM_017009181.1:c.5592+111T>A XP_016864670.1:n.5592+111T>A
XM_017009182.1:c.5592+111T>A XP_016864671.1:n.5592+111T>A
XM_017009183.1:c.5592+111T>A XP_016864672.1:n.5592+111T>A
XM_017009184.1:c.5592+111T>A XP_016864673.1:n.5592+111T>A
XM_017009185.1:c.681+111T>A XP_016864674.1:n.681+111T>A
XM_017009186.1:c.234+111T>A XP_016864675.1:n.234+111T>A
XM_017009187.1:c.5592+111T>A XP_016864676.1:n.5592+111T>A
XM_024454388.1:c.4497+111T>A XP_024310156.1:n.4497+111T>A
XM_024454389.1:c.4086+111T>A XP_024310157.1:n.4086+111T>A
XR_001742034.1:n.5609+111T>A
XR_001742035.1:n.5609+111T>A
NM_001369.3:c.5484+111T>A MANE Select NP_001360.1:n.5484+111T>A