Canonical Allele Identifier: CA3201233
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 350918
dbSNP Id: rs770244453
gnomAD v2: 5-13692151-G-T
gnomAD v4: 5-13692042-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13692042G>T , CM000667.2:g.13692042G>T GRCh38
NC_000005.9:g.13692151G>T , CM000667.1:g.13692151G>T GRCh37
NC_000005.8:g.13745151G>T NCBI36
NG_013081.1:g.257439C>A
NG_013081.2:g.257439C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000683611.1:n.1150C>A
ENST00000265104.5:c.13817C>A MANE Select ENSP00000265104.4:p.Ala4606Asp
ENST00000681290.1:c.13772C>A ENSP00000505288.1:p.Ala4591Asp
ENST00000265104.4:c.13817C>A ENSP00000265104.4:p.Ala4606Asp
NM_001369.2:c.13817C>A NP_001360.1:p.Ala4606Asp
XM_005248262.2:c.13772C>A XP_005248319.1:p.Ala4591Asp
XM_005248262.3:c.13925C>A XP_005248319.2:p.Ala4642Asp
XM_017009177.1:c.13505C>A XP_016864666.1:p.Ala4502Asp
XM_017009178.1:c.12830C>A XP_016864667.1:p.Ala4277Asp
XM_017009179.2:c.12830C>A XP_016864668.1:p.Ala4277Asp
XM_017009185.1:c.9014C>A XP_016864674.1:p.Ala3005Asp
XM_017009186.1:c.8567C>A XP_016864675.1:p.Ala2856Asp
XM_017009188.1:c.7904C>A XP_016864677.1:p.Ala2635Asp
XM_024454388.1:c.12830C>A XP_024310156.1:p.Ala4277Asp
XM_024454389.1:c.12419C>A XP_024310157.1:p.Ala4140Asp
NM_001369.3:c.13817C>A MANE Select NP_001360.1:p.Ala4606Asp