Canonical Allele Identifier: CA2697547056

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2700308
• ClinVar RCV Id: RCV003536227

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13768952A>C , CM000667.2:g.13768952A>C	GRCh38
NC_000005.9:g.13769061A>C , CM000667.1:g.13769061A>C	GRCh37
NC_000005.8:g.13822061A>C	NCBI36
NG_013081.1:g.180529T>G
NG_013081.2:g.180529T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9897+8T>G MANE Select	ENSP00000265104.4:n.9897+8T>G
ENST00000681290.1:c.9852+8T>G	ENSP00000505288.1:n.9852+8T>G
ENST00000265104.4:c.9897+8T>G	ENSP00000265104.4:n.9897+8T>G
ENST00000504001.3:n.609+8T>G
NM_001369.2:c.9897+8T>G	NP_001360.1:n.9897+8T>G
XM_005248262.2:c.9852+8T>G	XP_005248319.1:n.9852+8T>G
XM_005248262.3:c.10005+8T>G	XP_005248319.2:n.10005+8T>G
XM_017009177.1:c.10005+8T>G	XP_016864666.1:n.10005+8T>G
XM_017009178.1:c.8910+8T>G	XP_016864667.1:n.8910+8T>G
XM_017009179.2:c.8910+8T>G	XP_016864668.1:n.8910+8T>G
XM_017009180.1:c.10005+8T>G	XP_016864669.1:n.10005+8T>G
XM_017009181.1:c.10005+8T>G	XP_016864670.1:n.10005+8T>G
XM_017009182.1:c.10005+8T>G	XP_016864671.1:n.10005+8T>G
XM_017009185.1:c.5094+8T>G	XP_016864674.1:n.5094+8T>G
XM_017009186.1:c.4647+8T>G	XP_016864675.1:n.4647+8T>G
XM_017009188.1:c.3984+8T>G	XP_016864677.1:n.3984+8T>G
XM_024454388.1:c.8910+8T>G	XP_024310156.1:n.8910+8T>G
XM_024454389.1:c.8499+8T>G	XP_024310157.1:n.8499+8T>G
NM_001369.3:c.9897+8T>G MANE Select	NP_001360.1:n.9897+8T>G