Canonical Allele Identifier: CA443260007
Gene: DNAH5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.13735307C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13735198C>T , CM000667.2:g.13735198C>T GRCh38
NC_000005.9:g.13735307C>T , CM000667.1:g.13735307C>T GRCh37
NC_000005.8:g.13788307C>T NCBI36
NG_013081.1:g.214283G>A
NG_013081.2:g.214283G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.11694G>A MANE Select ENSP00000265104.4:p.Leu3898=
ENST00000681290.1:c.11649G>A ENSP00000505288.1:p.Leu3883=
ENST00000265104.4:c.11694G>A ENSP00000265104.4:p.Leu3898=
NM_001369.2:c.11694G>A NP_001360.1:p.Leu3898=
XM_005248262.2:c.11649G>A XP_005248319.1:p.Leu3883=
XM_005248262.3:c.11802G>A XP_005248319.2:p.Leu3934=
XM_017009177.1:c.11802G>A XP_016864666.1:p.Leu3934=
XM_017009178.1:c.10707G>A XP_016864667.1:p.Leu3569=
XM_017009179.2:c.10707G>A XP_016864668.1:p.Leu3569=
XM_017009180.1:c.11802G>A XP_016864669.1:p.Leu3934=
XM_017009181.1:c.11802G>A XP_016864670.1:p.Leu3934=
XM_017009185.1:c.6891G>A XP_016864674.1:p.Leu2297=
XM_017009186.1:c.6444G>A XP_016864675.1:p.Leu2148=
XM_017009188.1:c.5781G>A XP_016864677.1:p.Leu1927=
XM_024454388.1:c.10707G>A XP_024310156.1:p.Leu3569=
XM_024454389.1:c.10296G>A XP_024310157.1:p.Leu3432=
NM_001369.3:c.11694G>A MANE Select NP_001360.1:p.Leu3898=