Canonical Allele Identifier: CA2573138438

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1392194
• ClinVar RCV Id: RCV001896098
• dbSNP Id: rs2126611325

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735941C>T , CM000667.2:g.13735941C>T	GRCh38
NC_000005.9:g.13736050C>T , CM000667.1:g.13736050C>T	GRCh37
NC_000005.8:g.13789050C>T	NCBI36
NG_013081.1:g.213540G>A
NG_013081.2:g.213540G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11456-9G>A MANE Select	ENSP00000265104.4:n.11456-9G>A
ENST00000681290.1:c.11411-9G>A	ENSP00000505288.1:n.11411-9G>A
ENST00000265104.4:c.11456-9G>A	ENSP00000265104.4:n.11456-9G>A
NM_001369.2:c.11456-9G>A	NP_001360.1:n.11456-9G>A
XM_005248262.2:c.11411-9G>A	XP_005248319.1:n.11411-9G>A
XM_005248262.3:c.11564-9G>A	XP_005248319.2:n.11564-9G>A
XM_017009177.1:c.11564-9G>A	XP_016864666.1:n.11564-9G>A
XM_017009178.1:c.10469-9G>A	XP_016864667.1:n.10469-9G>A
XM_017009179.2:c.10469-9G>A	XP_016864668.1:n.10469-9G>A
XM_017009180.1:c.11564-9G>A	XP_016864669.1:n.11564-9G>A
XM_017009181.1:c.11564-9G>A	XP_016864670.1:n.11564-9G>A
XM_017009182.1:c.11320-9G>A	XP_016864671.1:n.11320-9G>A
XM_017009185.1:c.6653-9G>A	XP_016864674.1:n.6653-9G>A
XM_017009186.1:c.6206-9G>A	XP_016864675.1:n.6206-9G>A
XM_017009188.1:c.5543-9G>A	XP_016864677.1:n.5543-9G>A
XM_024454388.1:c.10469-9G>A	XP_024310156.1:n.10469-9G>A
XM_024454389.1:c.10058-9G>A	XP_024310157.1:n.10058-9G>A
NM_001369.3:c.11456-9G>A MANE Select	NP_001360.1:n.11456-9G>A