Canonical Allele Identifier: CA10619129
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 351188
ClinVar RCV Id: RCV000298257
dbSNP Id: rs886060007
gnomAD v3: 5-13870832-T-C
gnomAD v4: 5-13870832-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13870832T>C , CM000667.2:g.13870832T>C GRCh38
NC_000005.9:g.13870941T>C , CM000667.1:g.13870941T>C GRCh37
NC_000005.8:g.13923941T>C NCBI36
NG_013081.1:g.78649A>G
NG_013081.2:g.78649A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.3769A>G MANE Select ENSP00000265104.4:p.Met1257Val
ENST00000681290.1:c.3724A>G ENSP00000505288.1:p.Met1242Val
ENST00000265104.4:c.3769A>G ENSP00000265104.4:p.Met1257Val
NM_001369.2:c.3769A>G NP_001360.1:p.Met1257Val
XM_005248262.2:c.3724A>G XP_005248319.1:p.Met1242Val
XM_011513990.1:c.3769A>G XP_011512292.1:p.Met1257Val
XR_925598.1:n.3976A>G
XM_005248262.3:c.3877A>G XP_005248319.2:p.Met1293Val
XM_017009177.1:c.3877A>G XP_016864666.1:p.Met1293Val
XM_017009178.1:c.2782A>G XP_016864667.1:p.Met928Val
XM_017009179.2:c.2782A>G XP_016864668.1:p.Met928Val
XM_017009180.1:c.3877A>G XP_016864669.1:p.Met1293Val
XM_017009181.1:c.3877A>G XP_016864670.1:p.Met1293Val
XM_017009182.1:c.3877A>G XP_016864671.1:p.Met1293Val
XM_017009183.1:c.3877A>G XP_016864672.1:p.Met1293Val
XM_017009184.1:c.3877A>G XP_016864673.1:p.Met1293Val
XM_017009187.1:c.3877A>G XP_016864676.1:p.Met1293Val
XM_024454388.1:c.2782A>G XP_024310156.1:p.Met928Val
XM_024454389.1:c.2371A>G XP_024310157.1:p.Met791Val
XR_001742034.1:n.3894A>G
XR_001742035.1:n.3894A>G
NM_001369.3:c.3769A>G MANE Select NP_001360.1:p.Met1257Val