Canonical Allele Identifier: CA359192174

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13753605C>T (hg19) ; chr5:g.13753496C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753496C>T , CM000667.2:g.13753496C>T	GRCh38
NC_000005.9:g.13753605C>T , CM000667.1:g.13753605C>T	GRCh37
NC_000005.8:g.13806605C>T	NCBI36
NG_013081.1:g.195985G>A
NG_013081.2:g.195985G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10609G>A MANE Select	ENSP00000265104.4:p.Glu3537Lys
ENST00000681290.1:c.10564G>A	ENSP00000505288.1:p.Glu3522Lys
ENST00000265104.4:c.10609G>A	ENSP00000265104.4:p.Glu3537Lys
NM_001369.2:c.10609G>A	NP_001360.1:p.Glu3537Lys
XM_005248262.2:c.10564G>A	XP_005248319.1:p.Glu3522Lys
XM_005248262.3:c.10717G>A	XP_005248319.2:p.Glu3573Lys
XM_017009177.1:c.10717G>A	XP_016864666.1:p.Glu3573Lys
XM_017009178.1:c.9622G>A	XP_016864667.1:p.Glu3208Lys
XM_017009179.2:c.9622G>A	XP_016864668.1:p.Glu3208Lys
XM_017009180.1:c.10717G>A	XP_016864669.1:p.Glu3573Lys
XM_017009181.1:c.10717G>A	XP_016864670.1:p.Glu3573Lys
XM_017009182.1:c.10717G>A	XP_016864671.1:p.Glu3573Lys
XM_017009185.1:c.5806G>A	XP_016864674.1:p.Glu1936Lys
XM_017009186.1:c.5359G>A	XP_016864675.1:p.Glu1787Lys
XM_017009188.1:c.4696G>A	XP_016864677.1:p.Glu1566Lys
XM_024454388.1:c.9622G>A	XP_024310156.1:p.Glu3208Lys
XM_024454389.1:c.9211G>A	XP_024310157.1:p.Glu3071Lys
NM_001369.3:c.10609G>A MANE Select	NP_001360.1:p.Glu3537Lys