Canonical Allele Identifier: CA443259408
Gene: DNAH5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.13781039T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13780930T>A , CM000667.2:g.13780930T>A GRCh38
NC_000005.9:g.13781039T>A , CM000667.1:g.13781039T>A GRCh37
NC_000005.8:g.13834039T>A NCBI36
NG_013081.1:g.168551A>T
NG_013081.2:g.168551A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.8850A>T MANE Select ENSP00000265104.4:p.Gly2950=
ENST00000681290.1:c.8805A>T ENSP00000505288.1:p.Gly2935=
ENST00000265104.4:c.8850A>T ENSP00000265104.4:p.Gly2950=
NM_001369.2:c.8850A>T NP_001360.1:p.Gly2950=
XM_005248262.2:c.8805A>T XP_005248319.1:p.Gly2935=
XM_011513990.1:c.8850A>T XP_011512292.1:p.Gly2950=
XR_925598.1:n.9028-3575A>T
XM_005248262.3:c.8958A>T XP_005248319.2:p.Gly2986=
XM_017009177.1:c.8958A>T XP_016864666.1:p.Gly2986=
XM_017009178.1:c.7863A>T XP_016864667.1:p.Gly2621=
XM_017009179.2:c.7863A>T XP_016864668.1:p.Gly2621=
XM_017009180.1:c.8958A>T XP_016864669.1:p.Gly2986=
XM_017009181.1:c.8958A>T XP_016864670.1:p.Gly2986=
XM_017009182.1:c.8958A>T XP_016864671.1:p.Gly2986=
XM_017009183.1:c.8958A>T XP_016864672.1:p.Gly2986=
XM_017009184.1:c.8958A>T XP_016864673.1:p.Gly2986=
XM_017009185.1:c.4047A>T XP_016864674.1:p.Gly1349=
XM_017009186.1:c.3600A>T XP_016864675.1:p.Gly1200=
XM_017009188.1:c.2937A>T XP_016864677.1:p.Gly979=
XM_024454388.1:c.7863A>T XP_024310156.1:p.Gly2621=
XM_024454389.1:c.7452A>T XP_024310157.1:p.Gly2484=
XR_001742034.1:n.8946-3575A>T
XR_001742035.1:n.8946-3575A>T
NM_001369.3:c.8850A>T MANE Select NP_001360.1:p.Gly2950=