Canonical Allele Identifier: CA113918083
Gene: DNAH5 HGNC NCBI

Linked Data

dbSNP Id: rs910940258
gnomAD v3: 5-13752357-T-C
gnomAD v4: 5-13752357-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13752357T>C , CM000667.2:g.13752357T>C GRCh38
NC_000005.9:g.13752466T>C , CM000667.1:g.13752466T>C GRCh37
NC_000005.8:g.13805466T>C NCBI36
NG_013081.1:g.197124A>G
NG_013081.2:g.197124A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.10873-68A>G MANE Select ENSP00000265104.4:n.10873-68A>G
ENST00000681290.1:c.10828-68A>G ENSP00000505288.1:n.10828-68A>G
ENST00000265104.4:c.10873-68A>G ENSP00000265104.4:n.10873-68A>G
NM_001369.2:c.10873-68A>G NP_001360.1:n.10873-68A>G
XM_005248262.2:c.10828-68A>G XP_005248319.1:n.10828-68A>G
XM_005248262.3:c.10981-68A>G XP_005248319.2:n.10981-68A>G
XM_017009177.1:c.10981-68A>G XP_016864666.1:n.10981-68A>G
XM_017009178.1:c.9886-68A>G XP_016864667.1:n.9886-68A>G
XM_017009179.2:c.9886-68A>G XP_016864668.1:n.9886-68A>G
XM_017009180.1:c.10981-68A>G XP_016864669.1:n.10981-68A>G
XM_017009181.1:c.10981-68A>G XP_016864670.1:n.10981-68A>G
XM_017009182.1:c.10981-68A>G XP_016864671.1:n.10981-68A>G
XM_017009185.1:c.6070-68A>G XP_016864674.1:n.6070-68A>G
XM_017009186.1:c.5623-68A>G XP_016864675.1:n.5623-68A>G
XM_017009188.1:c.4960-68A>G XP_016864677.1:n.4960-68A>G
XM_024454388.1:c.9886-68A>G XP_024310156.1:n.9886-68A>G
XM_024454389.1:c.9475-68A>G XP_024310157.1:n.9475-68A>G
NM_001369.3:c.10873-68A>G MANE Select NP_001360.1:n.10873-68A>G