Canonical Allele Identifier: CA3202437
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 907483
dbSNP Id: rs780887847
gnomAD v4: 5-13769118-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13769118T>C , CM000667.2:g.13769118T>C GRCh38
NC_000005.9:g.13769227T>C , CM000667.1:g.13769227T>C GRCh37
NC_000005.8:g.13822227T>C NCBI36
NG_013081.1:g.180363A>G
NG_013081.2:g.180363A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9739A>G MANE Select ENSP00000265104.4:p.Met3247Val
ENST00000681290.1:c.9694A>G ENSP00000505288.1:p.Met3232Val
ENST00000265104.4:c.9739A>G ENSP00000265104.4:p.Met3247Val
ENST00000504001.3:n.451A>G
NM_001369.2:c.9739A>G NP_001360.1:p.Met3247Val
XM_005248262.2:c.9694A>G XP_005248319.1:p.Met3232Val
XM_005248262.3:c.9847A>G XP_005248319.2:p.Met3283Val
XM_017009177.1:c.9847A>G XP_016864666.1:p.Met3283Val
XM_017009178.1:c.8752A>G XP_016864667.1:p.Met2918Val
XM_017009179.2:c.8752A>G XP_016864668.1:p.Met2918Val
XM_017009180.1:c.9847A>G XP_016864669.1:p.Met3283Val
XM_017009181.1:c.9847A>G XP_016864670.1:p.Met3283Val
XM_017009182.1:c.9847A>G XP_016864671.1:p.Met3283Val
XM_017009185.1:c.4936A>G XP_016864674.1:p.Met1646Val
XM_017009186.1:c.4489A>G XP_016864675.1:p.Met1497Val
XM_017009188.1:c.3826A>G XP_016864677.1:p.Met1276Val
XM_024454388.1:c.8752A>G XP_024310156.1:p.Met2918Val
XM_024454389.1:c.8341A>G XP_024310157.1:p.Met2781Val
NM_001369.3:c.9739A>G MANE Select NP_001360.1:p.Met3247Val