Canonical Allele Identifier: CA359191563

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13753491C>T (hg19) ; chr5:g.13753382C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753382C>T , CM000667.2:g.13753382C>T	GRCh38
NC_000005.9:g.13753491C>T , CM000667.1:g.13753491C>T	GRCh37
NC_000005.8:g.13806491C>T	NCBI36
NG_013081.1:g.196099G>A
NG_013081.2:g.196099G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10723G>A MANE Select	ENSP00000265104.4:p.Glu3575Lys
ENST00000681290.1:c.10678G>A	ENSP00000505288.1:p.Glu3560Lys
ENST00000265104.4:c.10723G>A	ENSP00000265104.4:p.Glu3575Lys
NM_001369.2:c.10723G>A	NP_001360.1:p.Glu3575Lys
XM_005248262.2:c.10678G>A	XP_005248319.1:p.Glu3560Lys
XM_005248262.3:c.10831G>A	XP_005248319.2:p.Glu3611Lys
XM_017009177.1:c.10831G>A	XP_016864666.1:p.Glu3611Lys
XM_017009178.1:c.9736G>A	XP_016864667.1:p.Glu3246Lys
XM_017009179.2:c.9736G>A	XP_016864668.1:p.Glu3246Lys
XM_017009180.1:c.10831G>A	XP_016864669.1:p.Glu3611Lys
XM_017009181.1:c.10831G>A	XP_016864670.1:p.Glu3611Lys
XM_017009182.1:c.10831G>A	XP_016864671.1:p.Glu3611Lys
XM_017009185.1:c.5920G>A	XP_016864674.1:p.Glu1974Lys
XM_017009186.1:c.5473G>A	XP_016864675.1:p.Glu1825Lys
XM_017009188.1:c.4810G>A	XP_016864677.1:p.Glu1604Lys
XM_024454388.1:c.9736G>A	XP_024310156.1:p.Glu3246Lys
XM_024454389.1:c.9325G>A	XP_024310157.1:p.Glu3109Lys
NM_001369.3:c.10723G>A MANE Select	NP_001360.1:p.Glu3575Lys