Canonical Allele Identifier: CA359197232

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708348G>T (hg19) ; chr5:g.13708239G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708239G>T , CM000667.2:g.13708239G>T	GRCh38
NC_000005.9:g.13708348G>T , CM000667.1:g.13708348G>T	GRCh37
NC_000005.8:g.13761348G>T	NCBI36
NG_013081.1:g.241242C>A
NG_013081.2:g.241242C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.555C>A
ENST00000265104.5:c.13222C>A MANE Select	ENSP00000265104.4:p.Arg4408Ser
ENST00000681290.1:c.13177C>A	ENSP00000505288.1:p.Arg4393Ser
ENST00000265104.4:c.13222C>A	ENSP00000265104.4:p.Arg4408Ser
NM_001369.2:c.13222C>A	NP_001360.1:p.Arg4408Ser
XM_005248262.2:c.13177C>A	XP_005248319.1:p.Arg4393Ser
XM_005248262.3:c.13330C>A	XP_005248319.2:p.Arg4444Ser
XM_017009177.1:c.12910C>A	XP_016864666.1:p.Arg4304Ser
XM_017009178.1:c.12235C>A	XP_016864667.1:p.Arg4079Ser
XM_017009179.2:c.12235C>A	XP_016864668.1:p.Arg4079Ser
XM_017009185.1:c.8419C>A	XP_016864674.1:p.Arg2807Ser
XM_017009186.1:c.7972C>A	XP_016864675.1:p.Arg2658Ser
XM_017009188.1:c.7309C>A	XP_016864677.1:p.Arg2437Ser
XM_024454388.1:c.12235C>A	XP_024310156.1:p.Arg4079Ser
XM_024454389.1:c.11824C>A	XP_024310157.1:p.Arg3942Ser
NM_001369.3:c.13222C>A MANE Select	NP_001360.1:p.Arg4408Ser