Canonical Allele Identifier: CA3201872
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 351036
dbSNP Id: rs200798994

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.11694G>T MANE Select ENSP00000265104.4:p.Leu3898Phe
ENST00000681290.1:c.11649G>T ENSP00000505288.1:p.Leu3883Phe
ENST00000265104.4:c.11694G>T ENSP00000265104.4:p.Leu3898Phe
NM_001369.2:c.11694G>T NP_001360.1:p.Leu3898Phe
XM_005248262.2:c.11649G>T XP_005248319.1:p.Leu3883Phe
XM_005248262.3:c.11802G>T XP_005248319.2:p.Leu3934Phe
XM_017009177.1:c.11802G>T XP_016864666.1:p.Leu3934Phe
XM_017009178.1:c.10707G>T XP_016864667.1:p.Leu3569Phe
XM_017009179.2:c.10707G>T XP_016864668.1:p.Leu3569Phe
XM_017009180.1:c.11802G>T XP_016864669.1:p.Leu3934Phe
XM_017009181.1:c.11802G>T XP_016864670.1:p.Leu3934Phe
XM_017009185.1:c.6891G>T XP_016864674.1:p.Leu2297Phe
XM_017009186.1:c.6444G>T XP_016864675.1:p.Leu2148Phe
XM_017009188.1:c.5781G>T XP_016864677.1:p.Leu1927Phe
XM_024454388.1:c.10707G>T XP_024310156.1:p.Leu3569Phe
XM_024454389.1:c.10296G>T XP_024310157.1:p.Leu3432Phe
NM_001369.3:c.11694G>T MANE Select NP_001360.1:p.Leu3898Phe