Canonical Allele Identifier: CA359209854
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13776702G>T , CM000667.2:g.13776702G>T GRCh38
NC_000005.9:g.13776811G>T , CM000667.1:g.13776811G>T GRCh37
NC_000005.8:g.13829811G>T NCBI36
NG_013081.1:g.172779C>A
NG_013081.2:g.172779C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9110C>A MANE Select ENSP00000265104.4:p.Ser3037Tyr
ENST00000681290.1:c.9065C>A ENSP00000505288.1:p.Ser3022Tyr
ENST00000265104.4:c.9110C>A ENSP00000265104.4:p.Ser3037Tyr
NM_001369.2:c.9110C>A NP_001360.1:p.Ser3037Tyr
XM_005248262.2:c.9065C>A XP_005248319.1:p.Ser3022Tyr
XM_011513990.1:c.9105C>A XP_011512292.1:p.Leu3035=
XR_925598.1:n.9181C>A
XM_005248262.3:c.9218C>A XP_005248319.2:p.Ser3073Tyr
XM_017009177.1:c.9218C>A XP_016864666.1:p.Ser3073Tyr
XM_017009178.1:c.8123C>A XP_016864667.1:p.Ser2708Tyr
XM_017009179.2:c.8123C>A XP_016864668.1:p.Ser2708Tyr
XM_017009180.1:c.9218C>A XP_016864669.1:p.Ser3073Tyr
XM_017009181.1:c.9218C>A XP_016864670.1:p.Ser3073Tyr
XM_017009182.1:c.9218C>A XP_016864671.1:p.Ser3073Tyr
XM_017009183.1:c.9218C>A XP_016864672.1:p.Ser3073Tyr
XM_017009184.1:c.9213C>A XP_016864673.1:p.Leu3071=
XM_017009185.1:c.4307C>A XP_016864674.1:p.Ser1436Tyr
XM_017009186.1:c.3860C>A XP_016864675.1:p.Ser1287Tyr
XM_017009188.1:c.3197C>A XP_016864677.1:p.Ser1066Tyr
XM_024454388.1:c.8123C>A XP_024310156.1:p.Ser2708Tyr
XM_024454389.1:c.7712C>A XP_024310157.1:p.Ser2571Tyr
XR_001742034.1:n.9104C>A
XR_001742035.1:n.9099C>A
NM_001369.3:c.9110C>A MANE Select NP_001360.1:p.Ser3037Tyr