Canonical Allele Identifier: CA359204269
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13770787A>T , CM000667.2:g.13770787A>T GRCh38
NC_000005.9:g.13770896A>T , CM000667.1:g.13770896A>T GRCh37
NC_000005.8:g.13823896A>T NCBI36
NG_013081.1:g.178694T>A
NG_013081.2:g.178694T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9567T>A MANE Select ENSP00000265104.4:p.Tyr3189Ter
ENST00000681290.1:c.9522T>A ENSP00000505288.1:p.Tyr3174Ter
ENST00000265104.4:c.9567T>A ENSP00000265104.4:p.Tyr3189Ter
ENST00000504001.3:n.279T>A
NM_001369.2:c.9567T>A NP_001360.1:p.Tyr3189Ter
XM_005248262.2:c.9522T>A XP_005248319.1:p.Tyr3174Ter
XM_005248262.3:c.9675T>A XP_005248319.2:p.Tyr3225Ter
XM_017009177.1:c.9675T>A XP_016864666.1:p.Tyr3225Ter
XM_017009178.1:c.8580T>A XP_016864667.1:p.Tyr2860Ter
XM_017009179.2:c.8580T>A XP_016864668.1:p.Tyr2860Ter
XM_017009180.1:c.9675T>A XP_016864669.1:p.Tyr3225Ter
XM_017009181.1:c.9675T>A XP_016864670.1:p.Tyr3225Ter
XM_017009182.1:c.9675T>A XP_016864671.1:p.Tyr3225Ter
XM_017009183.1:c.9675T>A XP_016864672.1:p.Tyr3225Ter
XM_017009185.1:c.4764T>A XP_016864674.1:p.Tyr1588Ter
XM_017009186.1:c.4317T>A XP_016864675.1:p.Tyr1439Ter
XM_017009188.1:c.3654T>A XP_016864677.1:p.Tyr1218Ter
XM_024454388.1:c.8580T>A XP_024310156.1:p.Tyr2860Ter
XM_024454389.1:c.8169T>A XP_024310157.1:p.Tyr2723Ter
NM_001369.3:c.9567T>A MANE Select NP_001360.1:p.Tyr3189Ter