Canonical Allele Identifier: CA443535496
Gene: DNAH5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.13770874G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13770765G>T , CM000667.2:g.13770765G>T GRCh38
NC_000005.9:g.13770874G>T , CM000667.1:g.13770874G>T GRCh37
NC_000005.8:g.13823874G>T NCBI36
NG_013081.1:g.178716C>A
NG_013081.2:g.178716C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.9589C>A MANE Select ENSP00000265104.4:p.Arg3197=
ENST00000681290.1:c.9544C>A ENSP00000505288.1:p.Arg3182=
ENST00000265104.4:c.9589C>A ENSP00000265104.4:p.Arg3197=
ENST00000504001.3:n.301C>A
NM_001369.2:c.9589C>A NP_001360.1:p.Arg3197=
XM_005248262.2:c.9544C>A XP_005248319.1:p.Arg3182=
XM_005248262.3:c.9697C>A XP_005248319.2:p.Arg3233=
XM_017009177.1:c.9697C>A XP_016864666.1:p.Arg3233=
XM_017009178.1:c.8602C>A XP_016864667.1:p.Arg2868=
XM_017009179.2:c.8602C>A XP_016864668.1:p.Arg2868=
XM_017009180.1:c.9697C>A XP_016864669.1:p.Arg3233=
XM_017009181.1:c.9697C>A XP_016864670.1:p.Arg3233=
XM_017009182.1:c.9697C>A XP_016864671.1:p.Arg3233=
XM_017009183.1:c.9697C>A XP_016864672.1:p.Arg3233=
XM_017009185.1:c.4786C>A XP_016864674.1:p.Arg1596=
XM_017009186.1:c.4339C>A XP_016864675.1:p.Arg1447=
XM_017009188.1:c.3676C>A XP_016864677.1:p.Arg1226=
XM_024454388.1:c.8602C>A XP_024310156.1:p.Arg2868=
XM_024454389.1:c.8191C>A XP_024310157.1:p.Arg2731=
NM_001369.3:c.9589C>A MANE Select NP_001360.1:p.Arg3197=