Canonical Allele Identifier: CA359197314

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708355G>T (hg19) ; chr5:g.13708246G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708246G>T , CM000667.2:g.13708246G>T	GRCh38
NC_000005.9:g.13708355G>T , CM000667.1:g.13708355G>T	GRCh37
NC_000005.8:g.13761355G>T	NCBI36
NG_013081.1:g.241235C>A
NG_013081.2:g.241235C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.548C>A
ENST00000265104.5:c.13215C>A MANE Select	ENSP00000265104.4:p.Ser4405Arg
ENST00000681290.1:c.13170C>A	ENSP00000505288.1:p.Ser4390Arg
ENST00000265104.4:c.13215C>A	ENSP00000265104.4:p.Ser4405Arg
NM_001369.2:c.13215C>A	NP_001360.1:p.Ser4405Arg
XM_005248262.2:c.13170C>A	XP_005248319.1:p.Ser4390Arg
XM_005248262.3:c.13323C>A	XP_005248319.2:p.Ser4441Arg
XM_017009177.1:c.12903C>A	XP_016864666.1:p.Ser4301Arg
XM_017009178.1:c.12228C>A	XP_016864667.1:p.Ser4076Arg
XM_017009179.2:c.12228C>A	XP_016864668.1:p.Ser4076Arg
XM_017009185.1:c.8412C>A	XP_016864674.1:p.Ser2804Arg
XM_017009186.1:c.7965C>A	XP_016864675.1:p.Ser2655Arg
XM_017009188.1:c.7302C>A	XP_016864677.1:p.Ser2434Arg
XM_024454388.1:c.12228C>A	XP_024310156.1:p.Ser4076Arg
XM_024454389.1:c.11817C>A	XP_024310157.1:p.Ser3939Arg
NM_001369.3:c.13215C>A MANE Select	NP_001360.1:p.Ser4405Arg