Canonical Allele Identifier: CA359190514
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13752275A>C , CM000667.2:g.13752275A>C GRCh38
NC_000005.9:g.13752384A>C , CM000667.1:g.13752384A>C GRCh37
NC_000005.8:g.13805384A>C NCBI36
NG_013081.1:g.197206T>G
NG_013081.2:g.197206T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.10887T>G MANE Select ENSP00000265104.4:p.Asn3629Lys
ENST00000681290.1:c.10842T>G ENSP00000505288.1:p.Asn3614Lys
ENST00000265104.4:c.10887T>G ENSP00000265104.4:p.Asn3629Lys
NM_001369.2:c.10887T>G NP_001360.1:p.Asn3629Lys
XM_005248262.2:c.10842T>G XP_005248319.1:p.Asn3614Lys
XM_005248262.3:c.10995T>G XP_005248319.2:p.Asn3665Lys
XM_017009177.1:c.10995T>G XP_016864666.1:p.Asn3665Lys
XM_017009178.1:c.9900T>G XP_016864667.1:p.Asn3300Lys
XM_017009179.2:c.9900T>G XP_016864668.1:p.Asn3300Lys
XM_017009180.1:c.10995T>G XP_016864669.1:p.Asn3665Lys
XM_017009181.1:c.10995T>G XP_016864670.1:p.Asn3665Lys
XM_017009182.1:c.10995T>G XP_016864671.1:p.Asn3665Lys
XM_017009185.1:c.6084T>G XP_016864674.1:p.Asn2028Lys
XM_017009186.1:c.5637T>G XP_016864675.1:p.Asn1879Lys
XM_017009188.1:c.4974T>G XP_016864677.1:p.Asn1658Lys
XM_024454388.1:c.9900T>G XP_024310156.1:p.Asn3300Lys
XM_024454389.1:c.9489T>G XP_024310157.1:p.Asn3163Lys
NM_001369.3:c.10887T>G MANE Select NP_001360.1:p.Asn3629Lys