Canonical Allele Identifier: CA3204208
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2510953
ClinVar RCV Id: RCV004288290
dbSNP Id: rs112124692
gnomAD v2: 5-13871060-A-C
gnomAD v3: 5-13870951-A-C
gnomAD v4: 5-13870951-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13870951A>C , CM000667.2:g.13870951A>C GRCh38
NC_000005.9:g.13871060A>C , CM000667.1:g.13871060A>C GRCh37
NC_000005.8:g.13924060A>C NCBI36
NG_013081.1:g.78530T>G
NG_013081.2:g.78530T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.3650T>G MANE Select ENSP00000265104.4:p.Ile1217Ser
ENST00000681290.1:c.3605T>G ENSP00000505288.1:p.Ile1202Ser
ENST00000265104.4:c.3650T>G ENSP00000265104.4:p.Ile1217Ser
NM_001369.2:c.3650T>G NP_001360.1:p.Ile1217Ser
XM_005248262.2:c.3605T>G XP_005248319.1:p.Ile1202Ser
XM_011513990.1:c.3650T>G XP_011512292.1:p.Ile1217Ser
XR_925598.1:n.3857T>G
XM_005248262.3:c.3758T>G XP_005248319.2:p.Ile1253Ser
XM_017009177.1:c.3758T>G XP_016864666.1:p.Ile1253Ser
XM_017009178.1:c.2663T>G XP_016864667.1:p.Ile888Ser
XM_017009179.2:c.2663T>G XP_016864668.1:p.Ile888Ser
XM_017009180.1:c.3758T>G XP_016864669.1:p.Ile1253Ser
XM_017009181.1:c.3758T>G XP_016864670.1:p.Ile1253Ser
XM_017009182.1:c.3758T>G XP_016864671.1:p.Ile1253Ser
XM_017009183.1:c.3758T>G XP_016864672.1:p.Ile1253Ser
XM_017009184.1:c.3758T>G XP_016864673.1:p.Ile1253Ser
XM_017009187.1:c.3758T>G XP_016864676.1:p.Ile1253Ser
XM_024454388.1:c.2663T>G XP_024310156.1:p.Ile888Ser
XM_024454389.1:c.2252T>G XP_024310157.1:p.Ile751Ser
XR_001742034.1:n.3775T>G
XR_001742035.1:n.3775T>G
NM_001369.3:c.3650T>G MANE Select NP_001360.1:p.Ile1217Ser