Canonical Allele Identifier: CA443248733
Gene: DNAH5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.13752371T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13752262T>G , CM000667.2:g.13752262T>G GRCh38
NC_000005.9:g.13752371T>G , CM000667.1:g.13752371T>G GRCh37
NC_000005.8:g.13805371T>G NCBI36
NG_013081.1:g.197219A>C
NG_013081.2:g.197219A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.10900A>C MANE Select ENSP00000265104.4:p.Arg3634=
ENST00000681290.1:c.10855A>C ENSP00000505288.1:p.Arg3619=
ENST00000265104.4:c.10900A>C ENSP00000265104.4:p.Arg3634=
NM_001369.2:c.10900A>C NP_001360.1:p.Arg3634=
XM_005248262.2:c.10855A>C XP_005248319.1:p.Arg3619=
XM_005248262.3:c.11008A>C XP_005248319.2:p.Arg3670=
XM_017009177.1:c.11008A>C XP_016864666.1:p.Arg3670=
XM_017009178.1:c.9913A>C XP_016864667.1:p.Arg3305=
XM_017009179.2:c.9913A>C XP_016864668.1:p.Arg3305=
XM_017009180.1:c.11008A>C XP_016864669.1:p.Arg3670=
XM_017009181.1:c.11008A>C XP_016864670.1:p.Arg3670=
XM_017009182.1:c.11008A>C XP_016864671.1:p.Arg3670=
XM_017009185.1:c.6097A>C XP_016864674.1:p.Arg2033=
XM_017009186.1:c.5650A>C XP_016864675.1:p.Arg1884=
XM_017009188.1:c.4987A>C XP_016864677.1:p.Arg1663=
XM_024454388.1:c.9913A>C XP_024310156.1:p.Arg3305=
XM_024454389.1:c.9502A>C XP_024310157.1:p.Arg3168=
NM_001369.3:c.10900A>C MANE Select NP_001360.1:p.Arg3634=