Canonical Allele Identifier: CA1073408111
Gene: DNAH5 HGNC NCBI

Linked Data

gnomAD v3: 5-13769291-A-C
gnomAD v4: 5-13769291-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13769291A>C , CM000667.2:g.13769291A>C GRCh38
NC_000005.9:g.13769400A>C , CM000667.1:g.13769400A>C GRCh37
NC_000005.8:g.13822400A>C NCBI36
NG_013081.1:g.180190T>G
NG_013081.2:g.180190T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9721-155T>G MANE Select ENSP00000265104.4:n.9721-155T>G
ENST00000681290.1:c.9676-155T>G ENSP00000505288.1:n.9676-155T>G
ENST00000265104.4:c.9721-155T>G ENSP00000265104.4:n.9721-155T>G
ENST00000504001.3:n.433-155T>G
NM_001369.2:c.9721-155T>G NP_001360.1:n.9721-155T>G
XM_005248262.2:c.9676-155T>G XP_005248319.1:n.9676-155T>G
XM_005248262.3:c.9829-155T>G XP_005248319.2:n.9829-155T>G
XM_017009177.1:c.9829-155T>G XP_016864666.1:n.9829-155T>G
XM_017009178.1:c.8734-155T>G XP_016864667.1:n.8734-155T>G
XM_017009179.2:c.8734-155T>G XP_016864668.1:n.8734-155T>G
XM_017009180.1:c.9829-155T>G XP_016864669.1:n.9829-155T>G
XM_017009181.1:c.9829-155T>G XP_016864670.1:n.9829-155T>G
XM_017009182.1:c.9829-155T>G XP_016864671.1:n.9829-155T>G
XM_017009185.1:c.4918-155T>G XP_016864674.1:n.4918-155T>G
XM_017009186.1:c.4471-155T>G XP_016864675.1:n.4471-155T>G
XM_017009188.1:c.3808-155T>G XP_016864677.1:n.3808-155T>G
XM_024454388.1:c.8734-155T>G XP_024310156.1:n.8734-155T>G
XM_024454389.1:c.8323-155T>G XP_024310157.1:n.8323-155T>G
NM_001369.3:c.9721-155T>G MANE Select NP_001360.1:n.9721-155T>G