Canonical Allele Identifier: CA443259966
Gene: DNAH5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.13735241T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13735132T>C , CM000667.2:g.13735132T>C GRCh38
NC_000005.9:g.13735241T>C , CM000667.1:g.13735241T>C GRCh37
NC_000005.8:g.13788241T>C NCBI36
NG_013081.1:g.214349A>G
NG_013081.2:g.214349A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.11760A>G MANE Select ENSP00000265104.4:p.Lys3920=
ENST00000681290.1:c.11715A>G ENSP00000505288.1:p.Lys3905=
ENST00000265104.4:c.11760A>G ENSP00000265104.4:p.Lys3920=
NM_001369.2:c.11760A>G NP_001360.1:p.Lys3920=
XM_005248262.2:c.11715A>G XP_005248319.1:p.Lys3905=
XM_005248262.3:c.11868A>G XP_005248319.2:p.Lys3956=
XM_017009177.1:c.11868A>G XP_016864666.1:p.Lys3956=
XM_017009178.1:c.10773A>G XP_016864667.1:p.Lys3591=
XM_017009179.2:c.10773A>G XP_016864668.1:p.Lys3591=
XM_017009180.1:c.11868A>G XP_016864669.1:p.Lys3956=
XM_017009181.1:c.11868A>G XP_016864670.1:p.Lys3956=
XM_017009185.1:c.6957A>G XP_016864674.1:p.Lys2319=
XM_017009186.1:c.6510A>G XP_016864675.1:p.Lys2170=
XM_017009188.1:c.5847A>G XP_016864677.1:p.Lys1949=
XM_024454388.1:c.10773A>G XP_024310156.1:p.Lys3591=
XM_024454389.1:c.10362A>G XP_024310157.1:p.Lys3454=
NM_001369.3:c.11760A>G MANE Select NP_001360.1:p.Lys3920=