Canonical Allele Identifier: CA359204956
Gene: DNAH5 HGNC NCBI

Linked Data

dbSNP Id: rs1774579923
gnomAD v4: 5-13901296-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13901296G>A , CM000667.2:g.13901296G>A GRCh38
NC_000005.9:g.13901405G>A , CM000667.1:g.13901405G>A GRCh37
NC_000005.8:g.13954405G>A NCBI36
NG_013081.1:g.48185C>T
NG_013081.2:g.48185C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.2008C>T MANE Select ENSP00000265104.4:p.Leu670Phe
ENST00000681290.1:c.1963C>T ENSP00000505288.1:p.Leu655Phe
ENST00000265104.4:c.2008C>T ENSP00000265104.4:p.Leu670Phe
NM_001369.2:c.2008C>T NP_001360.1:p.Leu670Phe
XM_005248262.2:c.1963C>T XP_005248319.1:p.Leu655Phe
XM_011513990.1:c.2008C>T XP_011512292.1:p.Leu670Phe
XR_925598.1:n.2215C>T
XM_005248262.3:c.2116C>T XP_005248319.2:p.Leu706Phe
XM_017009177.1:c.2116C>T XP_016864666.1:p.Leu706Phe
XM_017009178.1:c.1021C>T XP_016864667.1:p.Leu341Phe
XM_017009179.2:c.1021C>T XP_016864668.1:p.Leu341Phe
XM_017009180.1:c.2116C>T XP_016864669.1:p.Leu706Phe
XM_017009181.1:c.2116C>T XP_016864670.1:p.Leu706Phe
XM_017009182.1:c.2116C>T XP_016864671.1:p.Leu706Phe
XM_017009183.1:c.2116C>T XP_016864672.1:p.Leu706Phe
XM_017009184.1:c.2116C>T XP_016864673.1:p.Leu706Phe
XM_017009187.1:c.2116C>T XP_016864676.1:p.Leu706Phe
XM_024454388.1:c.1021C>T XP_024310156.1:p.Leu341Phe
XM_024454389.1:c.610C>T XP_024310157.1:p.Leu204Phe
XR_001742034.1:n.2133C>T
XR_001742035.1:n.2133C>T
NM_001369.3:c.2008C>T MANE Select NP_001360.1:p.Leu670Phe