Canonical Allele Identifier: CA443251083

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708283T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708174T>G , CM000667.2:g.13708174T>G	GRCh38
NC_000005.9:g.13708283T>G , CM000667.1:g.13708283T>G	GRCh37
NC_000005.8:g.13761283T>G	NCBI36
NG_013081.1:g.241307A>C
NG_013081.2:g.241307A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.620A>C
ENST00000265104.5:c.13287A>C MANE Select	ENSP00000265104.4:p.Arg4429=
ENST00000681290.1:c.13242A>C	ENSP00000505288.1:p.Arg4414=
ENST00000265104.4:c.13287A>C	ENSP00000265104.4:p.Arg4429=
NM_001369.2:c.13287A>C	NP_001360.1:p.Arg4429=
XM_005248262.2:c.13242A>C	XP_005248319.1:p.Arg4414=
XM_005248262.3:c.13395A>C	XP_005248319.2:p.Arg4465=
XM_017009177.1:c.12975A>C	XP_016864666.1:p.Arg4325=
XM_017009178.1:c.12300A>C	XP_016864667.1:p.Arg4100=
XM_017009179.2:c.12300A>C	XP_016864668.1:p.Arg4100=
XM_017009185.1:c.8484A>C	XP_016864674.1:p.Arg2828=
XM_017009186.1:c.8037A>C	XP_016864675.1:p.Arg2679=
XM_017009188.1:c.7374A>C	XP_016864677.1:p.Arg2458=
XM_024454388.1:c.12300A>C	XP_024310156.1:p.Arg4100=
XM_024454389.1:c.11889A>C	XP_024310157.1:p.Arg3963=
NM_001369.3:c.13287A>C MANE Select	NP_001360.1:p.Arg4429=