Canonical Allele Identifier: CA179979
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 167003
dbSNP Id: rs12655133
gnomAD v2: 5-13769257-T-A
gnomAD v3: 5-13769148-T-A
gnomAD v4: 5-13769148-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13769148T>A , CM000667.2:g.13769148T>A GRCh38
NC_000005.9:g.13769257T>A , CM000667.1:g.13769257T>A GRCh37
NC_000005.8:g.13822257T>A NCBI36
NG_013081.1:g.180333A>T
NG_013081.2:g.180333A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.9721-12A>T MANE Select ENSP00000265104.4:n.9721-12A>T
ENST00000681290.1:c.9676-12A>T ENSP00000505288.1:n.9676-12A>T
ENST00000265104.4:c.9721-12A>T ENSP00000265104.4:n.9721-12A>T
ENST00000504001.3:n.433-12A>T
NM_001369.2:c.9721-12A>T NP_001360.1:n.9721-12A>T
XM_005248262.2:c.9676-12A>T XP_005248319.1:n.9676-12A>T
XM_005248262.3:c.9829-12A>T XP_005248319.2:n.9829-12A>T
XM_017009177.1:c.9829-12A>T XP_016864666.1:n.9829-12A>T
XM_017009178.1:c.8734-12A>T XP_016864667.1:n.8734-12A>T
XM_017009179.2:c.8734-12A>T XP_016864668.1:n.8734-12A>T
XM_017009180.1:c.9829-12A>T XP_016864669.1:n.9829-12A>T
XM_017009181.1:c.9829-12A>T XP_016864670.1:n.9829-12A>T
XM_017009182.1:c.9829-12A>T XP_016864671.1:n.9829-12A>T
XM_017009185.1:c.4918-12A>T XP_016864674.1:n.4918-12A>T
XM_017009186.1:c.4471-12A>T XP_016864675.1:n.4471-12A>T
XM_017009188.1:c.3808-12A>T XP_016864677.1:n.3808-12A>T
XM_024454388.1:c.8734-12A>T XP_024310156.1:n.8734-12A>T
XM_024454389.1:c.8323-12A>T XP_024310157.1:n.8323-12A>T
NM_001369.3:c.9721-12A>T MANE Select NP_001360.1:n.9721-12A>T