Canonical Allele Identifier: CA3201433
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 351005
dbSNP Id: rs202103048
gnomAD v2: 5-13708415-T-A
gnomAD v3: 5-13708306-T-A
gnomAD v4: 5-13708306-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13708306T>A , CM000667.2:g.13708306T>A GRCh38
NC_000005.9:g.13708415T>A , CM000667.1:g.13708415T>A GRCh37
NC_000005.8:g.13761415T>A NCBI36
NG_013081.1:g.241175A>T
NG_013081.2:g.241175A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683611.1:n.488A>T
ENST00000265104.5:c.13155A>T MANE Select ENSP00000265104.4:p.Pro4385=
ENST00000681290.1:c.13110A>T ENSP00000505288.1:p.Pro4370=
ENST00000265104.4:c.13155A>T ENSP00000265104.4:p.Pro4385=
NM_001369.2:c.13155A>T NP_001360.1:p.Pro4385=
XM_005248262.2:c.13110A>T XP_005248319.1:p.Pro4370=
XM_005248262.3:c.13263A>T XP_005248319.2:p.Pro4421=
XM_017009177.1:c.12843A>T XP_016864666.1:p.Pro4281=
XM_017009178.1:c.12168A>T XP_016864667.1:p.Pro4056=
XM_017009179.2:c.12168A>T XP_016864668.1:p.Pro4056=
XM_017009185.1:c.8352A>T XP_016864674.1:p.Pro2784=
XM_017009186.1:c.7905A>T XP_016864675.1:p.Pro2635=
XM_017009188.1:c.7242A>T XP_016864677.1:p.Pro2414=
XM_024454388.1:c.12168A>T XP_024310156.1:p.Pro4056=
XM_024454389.1:c.11757A>T XP_024310157.1:p.Pro3919=
NM_001369.3:c.13155A>T MANE Select NP_001360.1:p.Pro4385=