Canonical Allele Identifier: CA359207178
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13717401T>A , CM000667.2:g.13717401T>A GRCh38
NC_000005.9:g.13717510T>A , CM000667.1:g.13717510T>A GRCh37
NC_000005.8:g.13770510T>A NCBI36
NG_013081.1:g.232080A>T
NG_013081.2:g.232080A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.12619A>T MANE Select ENSP00000265104.4:p.Asn4207Tyr
ENST00000681290.1:c.12574A>T ENSP00000505288.1:p.Asn4192Tyr
ENST00000265104.4:c.12619A>T ENSP00000265104.4:p.Asn4207Tyr
NM_001369.2:c.12619A>T NP_001360.1:p.Asn4207Tyr
XM_005248262.2:c.12574A>T XP_005248319.1:p.Asn4192Tyr
XM_005248262.3:c.12727A>T XP_005248319.2:p.Asn4243Tyr
XM_017009177.1:c.12727A>T XP_016864666.1:p.Asn4243Tyr
XM_017009178.1:c.11632A>T XP_016864667.1:p.Asn3878Tyr
XM_017009179.2:c.11632A>T XP_016864668.1:p.Asn3878Tyr
XM_017009180.1:c.12727A>T XP_016864669.1:p.Asn4243Tyr
XM_017009185.1:c.7816A>T XP_016864674.1:p.Asn2606Tyr
XM_017009186.1:c.7369A>T XP_016864675.1:p.Asn2457Tyr
XM_017009188.1:c.6706A>T XP_016864677.1:p.Asn2236Tyr
XM_024454388.1:c.11632A>T XP_024310156.1:p.Asn3878Tyr
XM_024454389.1:c.11221A>T XP_024310157.1:p.Asn3741Tyr
NM_001369.3:c.12619A>T MANE Select NP_001360.1:p.Asn4207Tyr