Canonical Allele Identifier: CA359202067

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1724253
• ClinVar RCV Id: RCV002306808
• MyVariant Identifiers: chr5:g.13769185T>A (hg19) ; chr5:g.13769076T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769076T>A , CM000667.2:g.13769076T>A	GRCh38
NC_000005.9:g.13769185T>A , CM000667.1:g.13769185T>A	GRCh37
NC_000005.8:g.13822185T>A	NCBI36
NG_013081.1:g.180405A>T
NG_013081.2:g.180405A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9781A>T MANE Select	ENSP00000265104.4:p.Lys3261Ter
ENST00000681290.1:c.9736A>T	ENSP00000505288.1:p.Lys3246Ter
ENST00000265104.4:c.9781A>T	ENSP00000265104.4:p.Lys3261Ter
ENST00000504001.3:n.493A>T
NM_001369.2:c.9781A>T	NP_001360.1:p.Lys3261Ter
XM_005248262.2:c.9736A>T	XP_005248319.1:p.Lys3246Ter
XM_005248262.3:c.9889A>T	XP_005248319.2:p.Lys3297Ter
XM_017009177.1:c.9889A>T	XP_016864666.1:p.Lys3297Ter
XM_017009178.1:c.8794A>T	XP_016864667.1:p.Lys2932Ter
XM_017009179.2:c.8794A>T	XP_016864668.1:p.Lys2932Ter
XM_017009180.1:c.9889A>T	XP_016864669.1:p.Lys3297Ter
XM_017009181.1:c.9889A>T	XP_016864670.1:p.Lys3297Ter
XM_017009182.1:c.9889A>T	XP_016864671.1:p.Lys3297Ter
XM_017009185.1:c.4978A>T	XP_016864674.1:p.Lys1660Ter
XM_017009186.1:c.4531A>T	XP_016864675.1:p.Lys1511Ter
XM_017009188.1:c.3868A>T	XP_016864677.1:p.Lys1290Ter
XM_024454388.1:c.8794A>T	XP_024310156.1:p.Lys2932Ter
XM_024454389.1:c.8383A>T	XP_024310157.1:p.Lys2795Ter
NM_001369.3:c.9781A>T MANE Select	NP_001360.1:p.Lys3261Ter