Canonical Allele Identifier: CA2580071999

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2027910
• ClinVar RCV Id: RCV002866852
• gnomAD v4: 5-13708342-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708342T>C , CM000667.2:g.13708342T>C	GRCh38
NC_000005.9:g.13708451T>C , CM000667.1:g.13708451T>C	GRCh37
NC_000005.8:g.13761451T>C	NCBI36
NG_013081.1:g.241139A>G
NG_013081.2:g.241139A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.459-7A>G
ENST00000265104.5:c.13126-7A>G MANE Select	ENSP00000265104.4:n.13126-7A>G
ENST00000681290.1:c.13081-7A>G	ENSP00000505288.1:n.13081-7A>G
ENST00000265104.4:c.13126-7A>G	ENSP00000265104.4:n.13126-7A>G
NM_001369.2:c.13126-7A>G	NP_001360.1:n.13126-7A>G
XM_005248262.2:c.13081-7A>G	XP_005248319.1:n.13081-7A>G
XM_005248262.3:c.13234-7A>G	XP_005248319.2:n.13234-7A>G
XM_017009177.1:c.12814-7A>G	XP_016864666.1:n.12814-7A>G
XM_017009178.1:c.12139-7A>G	XP_016864667.1:n.12139-7A>G
XM_017009179.2:c.12139-7A>G	XP_016864668.1:n.12139-7A>G
XM_017009185.1:c.8323-7A>G	XP_016864674.1:n.8323-7A>G
XM_017009186.1:c.7876-7A>G	XP_016864675.1:n.7876-7A>G
XM_017009188.1:c.7213-7A>G	XP_016864677.1:n.7213-7A>G
XM_024454388.1:c.12139-7A>G	XP_024310156.1:n.12139-7A>G
XM_024454389.1:c.11728-7A>G	XP_024310157.1:n.11728-7A>G
NM_001369.3:c.13126-7A>G MANE Select	NP_001360.1:n.13126-7A>G