Canonical Allele Identifier: CA359205738
Gene: DNAH5 HGNC NCBI

Linked Data

dbSNP Id: rs1167057927
gnomAD v2: 5-13901535-C-G
gnomAD v3: 5-13901426-C-G
gnomAD v4: 5-13901426-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13901426C>G , CM000667.2:g.13901426C>G GRCh38
NC_000005.9:g.13901535C>G , CM000667.1:g.13901535C>G GRCh37
NC_000005.8:g.13954535C>G NCBI36
NG_013081.1:g.48055G>C
NG_013081.2:g.48055G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.1878G>C MANE Select ENSP00000265104.4:p.Lys626Asn
ENST00000681290.1:c.1833G>C ENSP00000505288.1:p.Lys611Asn
ENST00000265104.4:c.1878G>C ENSP00000265104.4:p.Lys626Asn
NM_001369.2:c.1878G>C NP_001360.1:p.Lys626Asn
XM_005248262.2:c.1833G>C XP_005248319.1:p.Lys611Asn
XM_011513990.1:c.1878G>C XP_011512292.1:p.Lys626Asn
XR_925598.1:n.2085G>C
XM_005248262.3:c.1986G>C XP_005248319.2:p.Lys662Asn
XM_017009177.1:c.1986G>C XP_016864666.1:p.Lys662Asn
XM_017009178.1:c.891G>C XP_016864667.1:p.Lys297Asn
XM_017009179.2:c.891G>C XP_016864668.1:p.Lys297Asn
XM_017009180.1:c.1986G>C XP_016864669.1:p.Lys662Asn
XM_017009181.1:c.1986G>C XP_016864670.1:p.Lys662Asn
XM_017009182.1:c.1986G>C XP_016864671.1:p.Lys662Asn
XM_017009183.1:c.1986G>C XP_016864672.1:p.Lys662Asn
XM_017009184.1:c.1986G>C XP_016864673.1:p.Lys662Asn
XM_017009187.1:c.1986G>C XP_016864676.1:p.Lys662Asn
XM_024454388.1:c.891G>C XP_024310156.1:p.Lys297Asn
XM_024454389.1:c.480G>C XP_024310157.1:p.Lys160Asn
XR_001742034.1:n.2003G>C
XR_001742035.1:n.2003G>C
NM_001369.3:c.1878G>C MANE Select NP_001360.1:p.Lys626Asn