Canonical Allele Identifier: CA1528435559
Gene: DNAH5 HGNC NCBI

Linked Data

dbSNP Id: rs1754162477
gnomAD v4: 5-13776828-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13776828T>C , CM000667.2:g.13776828T>C GRCh38
NC_000005.9:g.13776937T>C , CM000667.1:g.13776937T>C GRCh37
NC_000005.8:g.13829937T>C NCBI36
NG_013081.1:g.172653A>G
NG_013081.2:g.172653A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9106-122A>G MANE Select ENSP00000265104.4:n.9106-122A>G
ENST00000681290.1:c.9061-122A>G ENSP00000505288.1:n.9061-122A>G
ENST00000265104.4:c.9106-122A>G ENSP00000265104.4:n.9106-122A>G
NM_001369.2:c.9106-122A>G NP_001360.1:n.9106-122A>G
XM_005248262.2:c.9061-122A>G XP_005248319.1:n.9061-122A>G
XM_011513990.1:c.9101-122A>G XP_011512292.1:n.9101-122A>G
XR_925598.1:n.9177-122A>G
XM_005248262.3:c.9214-122A>G XP_005248319.2:n.9214-122A>G
XM_017009177.1:c.9214-122A>G XP_016864666.1:n.9214-122A>G
XM_017009178.1:c.8119-122A>G XP_016864667.1:n.8119-122A>G
XM_017009179.2:c.8119-122A>G XP_016864668.1:n.8119-122A>G
XM_017009180.1:c.9214-122A>G XP_016864669.1:n.9214-122A>G
XM_017009181.1:c.9214-122A>G XP_016864670.1:n.9214-122A>G
XM_017009182.1:c.9214-122A>G XP_016864671.1:n.9214-122A>G
XM_017009183.1:c.9214-122A>G XP_016864672.1:n.9214-122A>G
XM_017009184.1:c.9209-122A>G XP_016864673.1:n.9209-122A>G
XM_017009185.1:c.4303-122A>G XP_016864674.1:n.4303-122A>G
XM_017009186.1:c.3856-122A>G XP_016864675.1:n.3856-122A>G
XM_017009188.1:c.3193-122A>G XP_016864677.1:n.3193-122A>G
XM_024454388.1:c.8119-122A>G XP_024310156.1:n.8119-122A>G
XM_024454389.1:c.7708-122A>G XP_024310157.1:n.7708-122A>G
XR_001742034.1:n.9100-122A>G
XR_001742035.1:n.9095-122A>G
NM_001369.3:c.9106-122A>G MANE Select NP_001360.1:n.9106-122A>G