Canonical Allele Identifier: CA359232277
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 933639
ClinVar RCV Id: RCV001201892
dbSNP Id: rs1364628669
gnomAD v2: 5-13871068-C-T
gnomAD v3: 5-13870959-C-T
gnomAD v4: 5-13870959-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13870959C>T , CM000667.2:g.13870959C>T GRCh38
NC_000005.9:g.13871068C>T , CM000667.1:g.13871068C>T GRCh37
NC_000005.8:g.13924068C>T NCBI36
NG_013081.1:g.78522G>A
NG_013081.2:g.78522G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.3642G>A MANE Select ENSP00000265104.4:p.Met1214Ile
ENST00000681290.1:c.3597G>A ENSP00000505288.1:p.Met1199Ile
ENST00000265104.4:c.3642G>A ENSP00000265104.4:p.Met1214Ile
NM_001369.2:c.3642G>A NP_001360.1:p.Met1214Ile
XM_005248262.2:c.3597G>A XP_005248319.1:p.Met1199Ile
XM_011513990.1:c.3642G>A XP_011512292.1:p.Met1214Ile
XR_925598.1:n.3849G>A
XM_005248262.3:c.3750G>A XP_005248319.2:p.Met1250Ile
XM_017009177.1:c.3750G>A XP_016864666.1:p.Met1250Ile
XM_017009178.1:c.2655G>A XP_016864667.1:p.Met885Ile
XM_017009179.2:c.2655G>A XP_016864668.1:p.Met885Ile
XM_017009180.1:c.3750G>A XP_016864669.1:p.Met1250Ile
XM_017009181.1:c.3750G>A XP_016864670.1:p.Met1250Ile
XM_017009182.1:c.3750G>A XP_016864671.1:p.Met1250Ile
XM_017009183.1:c.3750G>A XP_016864672.1:p.Met1250Ile
XM_017009184.1:c.3750G>A XP_016864673.1:p.Met1250Ile
XM_017009187.1:c.3750G>A XP_016864676.1:p.Met1250Ile
XM_024454388.1:c.2655G>A XP_024310156.1:p.Met885Ile
XM_024454389.1:c.2244G>A XP_024310157.1:p.Met748Ile
XR_001742034.1:n.3767G>A
XR_001742035.1:n.3767G>A
NM_001369.3:c.3642G>A MANE Select NP_001360.1:p.Met1214Ile