Canonical Allele Identifier: CA359197341

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708357T>A (hg19) ; chr5:g.13708248T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708248T>A , CM000667.2:g.13708248T>A	GRCh38
NC_000005.9:g.13708357T>A , CM000667.1:g.13708357T>A	GRCh37
NC_000005.8:g.13761357T>A	NCBI36
NG_013081.1:g.241233A>T
NG_013081.2:g.241233A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.546A>T
ENST00000265104.5:c.13213A>T MANE Select	ENSP00000265104.4:p.Ser4405Cys
ENST00000681290.1:c.13168A>T	ENSP00000505288.1:p.Ser4390Cys
ENST00000265104.4:c.13213A>T	ENSP00000265104.4:p.Ser4405Cys
NM_001369.2:c.13213A>T	NP_001360.1:p.Ser4405Cys
XM_005248262.2:c.13168A>T	XP_005248319.1:p.Ser4390Cys
XM_005248262.3:c.13321A>T	XP_005248319.2:p.Ser4441Cys
XM_017009177.1:c.12901A>T	XP_016864666.1:p.Ser4301Cys
XM_017009178.1:c.12226A>T	XP_016864667.1:p.Ser4076Cys
XM_017009179.2:c.12226A>T	XP_016864668.1:p.Ser4076Cys
XM_017009185.1:c.8410A>T	XP_016864674.1:p.Ser2804Cys
XM_017009186.1:c.7963A>T	XP_016864675.1:p.Ser2655Cys
XM_017009188.1:c.7300A>T	XP_016864677.1:p.Ser2434Cys
XM_024454388.1:c.12226A>T	XP_024310156.1:p.Ser4076Cys
XM_024454389.1:c.11815A>T	XP_024310157.1:p.Ser3939Cys
NM_001369.3:c.13213A>T MANE Select	NP_001360.1:p.Ser4405Cys