Canonical Allele Identifier: CA3204709
Gene: DNAH5 HGNC NCBI

Linked Data

dbSNP Id: rs376358266
gnomAD v2: 5-13901447-C-A
gnomAD v4: 5-13901338-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13901338C>A , CM000667.2:g.13901338C>A GRCh38
NC_000005.9:g.13901447C>A , CM000667.1:g.13901447C>A GRCh37
NC_000005.8:g.13954447C>A NCBI36
NG_013081.1:g.48143G>T
NG_013081.2:g.48143G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.1966G>T MANE Select ENSP00000265104.4:p.Ala656Ser
ENST00000681290.1:c.1921G>T ENSP00000505288.1:p.Ala641Ser
ENST00000265104.4:c.1966G>T ENSP00000265104.4:p.Ala656Ser
NM_001369.2:c.1966G>T NP_001360.1:p.Ala656Ser
XM_005248262.2:c.1921G>T XP_005248319.1:p.Ala641Ser
XM_011513990.1:c.1966G>T XP_011512292.1:p.Ala656Ser
XR_925598.1:n.2173G>T
XM_005248262.3:c.2074G>T XP_005248319.2:p.Ala692Ser
XM_017009177.1:c.2074G>T XP_016864666.1:p.Ala692Ser
XM_017009178.1:c.979G>T XP_016864667.1:p.Ala327Ser
XM_017009179.2:c.979G>T XP_016864668.1:p.Ala327Ser
XM_017009180.1:c.2074G>T XP_016864669.1:p.Ala692Ser
XM_017009181.1:c.2074G>T XP_016864670.1:p.Ala692Ser
XM_017009182.1:c.2074G>T XP_016864671.1:p.Ala692Ser
XM_017009183.1:c.2074G>T XP_016864672.1:p.Ala692Ser
XM_017009184.1:c.2074G>T XP_016864673.1:p.Ala692Ser
XM_017009187.1:c.2074G>T XP_016864676.1:p.Ala692Ser
XM_024454388.1:c.979G>T XP_024310156.1:p.Ala327Ser
XM_024454389.1:c.568G>T XP_024310157.1:p.Ala190Ser
XR_001742034.1:n.2091G>T
XR_001742035.1:n.2091G>T
NM_001369.3:c.1966G>T MANE Select NP_001360.1:p.Ala656Ser