Canonical Allele Identifier: CA3202415
Gene: DNAH5 HGNC NCBI

Linked Data

dbSNP Id: rs750348620
gnomAD v2: 5-13769107-C-T
gnomAD v4: 5-13768998-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13768998C>T , CM000667.2:g.13768998C>T GRCh38
NC_000005.9:g.13769107C>T , CM000667.1:g.13769107C>T GRCh37
NC_000005.8:g.13822107C>T NCBI36
NG_013081.1:g.180483G>A
NG_013081.2:g.180483G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9859G>A MANE Select ENSP00000265104.4:p.Ala3287Thr
ENST00000681290.1:c.9814G>A ENSP00000505288.1:p.Ala3272Thr
ENST00000265104.4:c.9859G>A ENSP00000265104.4:p.Ala3287Thr
ENST00000504001.3:n.571G>A
NM_001369.2:c.9859G>A NP_001360.1:p.Ala3287Thr
XM_005248262.2:c.9814G>A XP_005248319.1:p.Ala3272Thr
XM_005248262.3:c.9967G>A XP_005248319.2:p.Ala3323Thr
XM_017009177.1:c.9967G>A XP_016864666.1:p.Ala3323Thr
XM_017009178.1:c.8872G>A XP_016864667.1:p.Ala2958Thr
XM_017009179.2:c.8872G>A XP_016864668.1:p.Ala2958Thr
XM_017009180.1:c.9967G>A XP_016864669.1:p.Ala3323Thr
XM_017009181.1:c.9967G>A XP_016864670.1:p.Ala3323Thr
XM_017009182.1:c.9967G>A XP_016864671.1:p.Ala3323Thr
XM_017009185.1:c.5056G>A XP_016864674.1:p.Ala1686Thr
XM_017009186.1:c.4609G>A XP_016864675.1:p.Ala1537Thr
XM_017009188.1:c.3946G>A XP_016864677.1:p.Ala1316Thr
XM_024454388.1:c.8872G>A XP_024310156.1:p.Ala2958Thr
XM_024454389.1:c.8461G>A XP_024310157.1:p.Ala2821Thr
NM_001369.3:c.9859G>A MANE Select NP_001360.1:p.Ala3287Thr