Canonical Allele Identifier: CA3202673
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 286067
dbSNP Id: rs755490391
gnomAD v2: 5-13780964-G-A
gnomAD v3: 5-13780855-G-A
gnomAD v4: 5-13780855-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13780855G>A , CM000667.2:g.13780855G>A GRCh38
NC_000005.9:g.13780964G>A , CM000667.1:g.13780964G>A GRCh37
NC_000005.8:g.13833964G>A NCBI36
NG_013081.1:g.168626C>T
NG_013081.2:g.168626C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.8925C>T MANE Select ENSP00000265104.4:p.Tyr2975=
ENST00000681290.1:c.8880C>T ENSP00000505288.1:p.Tyr2960=
ENST00000265104.4:c.8925C>T ENSP00000265104.4:p.Tyr2975=
NM_001369.2:c.8925C>T NP_001360.1:p.Tyr2975=
XM_005248262.2:c.8880C>T XP_005248319.1:p.Tyr2960=
XM_011513990.1:c.8925C>T XP_011512292.1:p.Tyr2975=
XR_925598.1:n.9028-3500C>T
XM_005248262.3:c.9033C>T XP_005248319.2:p.Tyr3011=
XM_017009177.1:c.9033C>T XP_016864666.1:p.Tyr3011=
XM_017009178.1:c.7938C>T XP_016864667.1:p.Tyr2646=
XM_017009179.2:c.7938C>T XP_016864668.1:p.Tyr2646=
XM_017009180.1:c.9033C>T XP_016864669.1:p.Tyr3011=
XM_017009181.1:c.9033C>T XP_016864670.1:p.Tyr3011=
XM_017009182.1:c.9033C>T XP_016864671.1:p.Tyr3011=
XM_017009183.1:c.9033C>T XP_016864672.1:p.Tyr3011=
XM_017009184.1:c.9033C>T XP_016864673.1:p.Tyr3011=
XM_017009185.1:c.4122C>T XP_016864674.1:p.Tyr1374=
XM_017009186.1:c.3675C>T XP_016864675.1:p.Tyr1225=
XM_017009188.1:c.3012C>T XP_016864677.1:p.Tyr1004=
XM_024454388.1:c.7938C>T XP_024310156.1:p.Tyr2646=
XM_024454389.1:c.7527C>T XP_024310157.1:p.Tyr2509=
XR_001742034.1:n.8946-3500C>T
XR_001742035.1:n.8946-3500C>T
NM_001369.3:c.8925C>T MANE Select NP_001360.1:p.Tyr2975=