Canonical Allele Identifier: CA359200184
Gene: DNAH5 HGNC NCBI

Linked Data

dbSNP Id: rs267600366
gnomAD v2: 5-13829732-G-C
gnomAD v4: 5-13829623-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13829623G>C , CM000667.2:g.13829623G>C GRCh38
NC_000005.9:g.13829732G>C , CM000667.1:g.13829732G>C GRCh37
NC_000005.8:g.13882732G>C NCBI36
NG_013081.1:g.119858C>G
NG_013081.2:g.119858C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000683090.1:n.1262C>G
ENST00000265104.5:c.6331C>G MANE Select ENSP00000265104.4:p.Arg2111Gly
ENST00000681290.1:c.6286C>G ENSP00000505288.1:p.Arg2096Gly
ENST00000265104.4:c.6331C>G ENSP00000265104.4:p.Arg2111Gly
NM_001369.2:c.6331C>G NP_001360.1:p.Arg2111Gly
XM_005248262.2:c.6286C>G XP_005248319.1:p.Arg2096Gly
XM_011513990.1:c.6331C>G XP_011512292.1:p.Arg2111Gly
XR_925598.1:n.6538C>G
XM_005248262.3:c.6439C>G XP_005248319.2:p.Arg2147Gly
XM_017009177.1:c.6439C>G XP_016864666.1:p.Arg2147Gly
XM_017009178.1:c.5344C>G XP_016864667.1:p.Arg1782Gly
XM_017009179.2:c.5344C>G XP_016864668.1:p.Arg1782Gly
XM_017009180.1:c.6439C>G XP_016864669.1:p.Arg2147Gly
XM_017009181.1:c.6439C>G XP_016864670.1:p.Arg2147Gly
XM_017009182.1:c.6439C>G XP_016864671.1:p.Arg2147Gly
XM_017009183.1:c.6439C>G XP_016864672.1:p.Arg2147Gly
XM_017009184.1:c.6439C>G XP_016864673.1:p.Arg2147Gly
XM_017009185.1:c.1528C>G XP_016864674.1:p.Arg510Gly
XM_017009186.1:c.1081C>G XP_016864675.1:p.Arg361Gly
XM_017009187.1:c.6439C>G XP_016864676.1:p.Arg2147Gly
XM_017009188.1:c.418C>G XP_016864677.1:p.Arg140Gly
XM_024454388.1:c.5344C>G XP_024310156.1:p.Arg1782Gly
XM_024454389.1:c.4933C>G XP_024310157.1:p.Arg1645Gly
XR_001742034.1:n.6456C>G
XR_001742035.1:n.6456C>G
NM_001369.3:c.6331C>G MANE Select NP_001360.1:p.Arg2111Gly