Canonical Allele Identifier: CA443260024
Gene: DNAH5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.13735334C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13735225C>T , CM000667.2:g.13735225C>T GRCh38
NC_000005.9:g.13735334C>T , CM000667.1:g.13735334C>T GRCh37
NC_000005.8:g.13788334C>T NCBI36
NG_013081.1:g.214256G>A
NG_013081.2:g.214256G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.11667G>A MANE Select ENSP00000265104.4:p.Glu3889=
ENST00000681290.1:c.11622G>A ENSP00000505288.1:p.Glu3874=
ENST00000265104.4:c.11667G>A ENSP00000265104.4:p.Glu3889=
NM_001369.2:c.11667G>A NP_001360.1:p.Glu3889=
XM_005248262.2:c.11622G>A XP_005248319.1:p.Glu3874=
XM_005248262.3:c.11775G>A XP_005248319.2:p.Glu3925=
XM_017009177.1:c.11775G>A XP_016864666.1:p.Glu3925=
XM_017009178.1:c.10680G>A XP_016864667.1:p.Glu3560=
XM_017009179.2:c.10680G>A XP_016864668.1:p.Glu3560=
XM_017009180.1:c.11775G>A XP_016864669.1:p.Glu3925=
XM_017009181.1:c.11775G>A XP_016864670.1:p.Glu3925=
XM_017009185.1:c.6864G>A XP_016864674.1:p.Glu2288=
XM_017009186.1:c.6417G>A XP_016864675.1:p.Glu2139=
XM_017009188.1:c.5754G>A XP_016864677.1:p.Glu1918=
XM_024454388.1:c.10680G>A XP_024310156.1:p.Glu3560=
XM_024454389.1:c.10269G>A XP_024310157.1:p.Glu3423=
NM_001369.3:c.11667G>A MANE Select NP_001360.1:p.Glu3889=