Canonical Allele Identifier: CA3202018
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 238957
dbSNP Id: rs529225111
gnomAD v2: 5-13737585-G-T
gnomAD v3: 5-13737476-G-T
gnomAD v4: 5-13737476-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13737476G>T , CM000667.2:g.13737476G>T GRCh38
NC_000005.9:g.13737585G>T , CM000667.1:g.13737585G>T GRCh37
NC_000005.8:g.13790585G>T NCBI36
NG_013081.1:g.212005C>A
NG_013081.2:g.212005C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.11231C>A MANE Select ENSP00000265104.4:p.Thr3744Asn
ENST00000681290.1:c.11186C>A ENSP00000505288.1:p.Thr3729Asn
ENST00000265104.4:c.11231C>A ENSP00000265104.4:p.Thr3744Asn
NM_001369.2:c.11231C>A NP_001360.1:p.Thr3744Asn
XM_005248262.2:c.11186C>A XP_005248319.1:p.Thr3729Asn
XM_005248262.3:c.11339C>A XP_005248319.2:p.Thr3780Asn
XM_017009177.1:c.11339C>A XP_016864666.1:p.Thr3780Asn
XM_017009178.1:c.10244C>A XP_016864667.1:p.Thr3415Asn
XM_017009179.2:c.10244C>A XP_016864668.1:p.Thr3415Asn
XM_017009180.1:c.11339C>A XP_016864669.1:p.Thr3780Asn
XM_017009181.1:c.11339C>A XP_016864670.1:p.Thr3780Asn
XM_017009182.1:c.11320-1544C>A XP_016864671.1:n.11320-1544C>A
XM_017009185.1:c.6428C>A XP_016864674.1:p.Thr2143Asn
XM_017009186.1:c.5981C>A XP_016864675.1:p.Thr1994Asn
XM_017009188.1:c.5318C>A XP_016864677.1:p.Thr1773Asn
XM_024454388.1:c.10244C>A XP_024310156.1:p.Thr3415Asn
XM_024454389.1:c.9833C>A XP_024310157.1:p.Thr3278Asn
NM_001369.3:c.11231C>A MANE Select NP_001360.1:p.Thr3744Asn