Canonical Allele Identifier: CA359221082
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13793557T>A , CM000667.2:g.13793557T>A GRCh38
NC_000005.9:g.13793666T>A , CM000667.1:g.13793666T>A GRCh37
NC_000005.8:g.13846666T>A NCBI36
NG_013081.1:g.155924A>T
NG_013081.2:g.155924A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.8182A>T MANE Select ENSP00000265104.4:p.Asn2728Tyr
ENST00000681290.1:c.8137A>T ENSP00000505288.1:p.Asn2713Tyr
ENST00000265104.4:c.8182A>T ENSP00000265104.4:p.Asn2728Tyr
NM_001369.2:c.8182A>T NP_001360.1:p.Asn2728Tyr
XM_005248262.2:c.8137A>T XP_005248319.1:p.Asn2713Tyr
XM_011513990.1:c.8182A>T XP_011512292.1:p.Asn2728Tyr
XR_925598.1:n.8389A>T
XM_005248262.3:c.8290A>T XP_005248319.2:p.Asn2764Tyr
XM_017009177.1:c.8290A>T XP_016864666.1:p.Asn2764Tyr
XM_017009178.1:c.7195A>T XP_016864667.1:p.Asn2399Tyr
XM_017009179.2:c.7195A>T XP_016864668.1:p.Asn2399Tyr
XM_017009180.1:c.8290A>T XP_016864669.1:p.Asn2764Tyr
XM_017009181.1:c.8290A>T XP_016864670.1:p.Asn2764Tyr
XM_017009182.1:c.8290A>T XP_016864671.1:p.Asn2764Tyr
XM_017009183.1:c.8290A>T XP_016864672.1:p.Asn2764Tyr
XM_017009184.1:c.8290A>T XP_016864673.1:p.Asn2764Tyr
XM_017009185.1:c.3379A>T XP_016864674.1:p.Asn1127Tyr
XM_017009186.1:c.2932A>T XP_016864675.1:p.Asn978Tyr
XM_017009188.1:c.2269A>T XP_016864677.1:p.Asn757Tyr
XM_024454388.1:c.7195A>T XP_024310156.1:p.Asn2399Tyr
XM_024454389.1:c.6784A>T XP_024310157.1:p.Asn2262Tyr
XR_001742034.1:n.8307A>T
XR_001742035.1:n.8307A>T
NM_001369.3:c.8182A>T MANE Select NP_001360.1:p.Asn2728Tyr