Canonical Allele Identifier: CA3202890
Gene: DNAH5 HGNC NCBI

Linked Data

dbSNP Id: rs150536659
gnomAD v2: 5-13793710-C-T
gnomAD v4: 5-13793601-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13793601C>T , CM000667.2:g.13793601C>T GRCh38
NC_000005.9:g.13793710C>T , CM000667.1:g.13793710C>T GRCh37
NC_000005.8:g.13846710C>T NCBI36
NG_013081.1:g.155880G>A
NG_013081.2:g.155880G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.8138G>A MANE Select ENSP00000265104.4:p.Arg2713His
ENST00000681290.1:c.8093G>A ENSP00000505288.1:p.Arg2698His
ENST00000265104.4:c.8138G>A ENSP00000265104.4:p.Arg2713His
NM_001369.2:c.8138G>A NP_001360.1:p.Arg2713His
XM_005248262.2:c.8093G>A XP_005248319.1:p.Arg2698His
XM_011513990.1:c.8138G>A XP_011512292.1:p.Arg2713His
XR_925598.1:n.8345G>A
XM_005248262.3:c.8246G>A XP_005248319.2:p.Arg2749His
XM_017009177.1:c.8246G>A XP_016864666.1:p.Arg2749His
XM_017009178.1:c.7151G>A XP_016864667.1:p.Arg2384His
XM_017009179.2:c.7151G>A XP_016864668.1:p.Arg2384His
XM_017009180.1:c.8246G>A XP_016864669.1:p.Arg2749His
XM_017009181.1:c.8246G>A XP_016864670.1:p.Arg2749His
XM_017009182.1:c.8246G>A XP_016864671.1:p.Arg2749His
XM_017009183.1:c.8246G>A XP_016864672.1:p.Arg2749His
XM_017009184.1:c.8246G>A XP_016864673.1:p.Arg2749His
XM_017009185.1:c.3335G>A XP_016864674.1:p.Arg1112His
XM_017009186.1:c.2888G>A XP_016864675.1:p.Arg963His
XM_017009188.1:c.2225G>A XP_016864677.1:p.Arg742His
XM_024454388.1:c.7151G>A XP_024310156.1:p.Arg2384His
XM_024454389.1:c.6740G>A XP_024310157.1:p.Arg2247His
XR_001742034.1:n.8263G>A
XR_001742035.1:n.8263G>A
NM_001369.3:c.8138G>A MANE Select NP_001360.1:p.Arg2713His