Canonical Allele Identifier: CA359191559

Gene: DNAH5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10723G>T MANE Select	ENSP00000265104.4:p.Glu3575Ter
ENST00000681290.1:c.10678G>T	ENSP00000505288.1:p.Glu3560Ter
ENST00000265104.4:c.10723G>T	ENSP00000265104.4:p.Glu3575Ter
NM_001369.2:c.10723G>T	NP_001360.1:p.Glu3575Ter
XM_005248262.2:c.10678G>T	XP_005248319.1:p.Glu3560Ter
XM_005248262.3:c.10831G>T	XP_005248319.2:p.Glu3611Ter
XM_017009177.1:c.10831G>T	XP_016864666.1:p.Glu3611Ter
XM_017009178.1:c.9736G>T	XP_016864667.1:p.Glu3246Ter
XM_017009179.2:c.9736G>T	XP_016864668.1:p.Glu3246Ter
XM_017009180.1:c.10831G>T	XP_016864669.1:p.Glu3611Ter
XM_017009181.1:c.10831G>T	XP_016864670.1:p.Glu3611Ter
XM_017009182.1:c.10831G>T	XP_016864671.1:p.Glu3611Ter
XM_017009185.1:c.5920G>T	XP_016864674.1:p.Glu1974Ter
XM_017009186.1:c.5473G>T	XP_016864675.1:p.Glu1825Ter
XM_017009188.1:c.4810G>T	XP_016864677.1:p.Glu1604Ter
XM_024454388.1:c.9736G>T	XP_024310156.1:p.Glu3246Ter
XM_024454389.1:c.9325G>T	XP_024310157.1:p.Glu3109Ter
NM_001369.3:c.10723G>T MANE Select	NP_001360.1:p.Glu3575Ter