Canonical Allele Identifier: CA443535364
Gene: DNAH5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.13871056T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13870947T>C , CM000667.2:g.13870947T>C GRCh38
NC_000005.9:g.13871056T>C , CM000667.1:g.13871056T>C GRCh37
NC_000005.8:g.13924056T>C NCBI36
NG_013081.1:g.78534A>G
NG_013081.2:g.78534A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.3654A>G MANE Select ENSP00000265104.4:p.Gly1218=
ENST00000681290.1:c.3609A>G ENSP00000505288.1:p.Gly1203=
ENST00000265104.4:c.3654A>G ENSP00000265104.4:p.Gly1218=
NM_001369.2:c.3654A>G NP_001360.1:p.Gly1218=
XM_005248262.2:c.3609A>G XP_005248319.1:p.Gly1203=
XM_011513990.1:c.3654A>G XP_011512292.1:p.Gly1218=
XR_925598.1:n.3861A>G
XM_005248262.3:c.3762A>G XP_005248319.2:p.Gly1254=
XM_017009177.1:c.3762A>G XP_016864666.1:p.Gly1254=
XM_017009178.1:c.2667A>G XP_016864667.1:p.Gly889=
XM_017009179.2:c.2667A>G XP_016864668.1:p.Gly889=
XM_017009180.1:c.3762A>G XP_016864669.1:p.Gly1254=
XM_017009181.1:c.3762A>G XP_016864670.1:p.Gly1254=
XM_017009182.1:c.3762A>G XP_016864671.1:p.Gly1254=
XM_017009183.1:c.3762A>G XP_016864672.1:p.Gly1254=
XM_017009184.1:c.3762A>G XP_016864673.1:p.Gly1254=
XM_017009187.1:c.3762A>G XP_016864676.1:p.Gly1254=
XM_024454388.1:c.2667A>G XP_024310156.1:p.Gly889=
XM_024454389.1:c.2256A>G XP_024310157.1:p.Gly752=
XR_001742034.1:n.3779A>G
XR_001742035.1:n.3779A>G
NM_001369.3:c.3654A>G MANE Select NP_001360.1:p.Gly1218=