Canonical Allele Identifier: CA10586901

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 258071
• ClinVar RCV Id: RCV000244755
• dbSNP Id: rs12655133
• gnomAD v4: 5-13769148-T-C
• MyVariant Identifiers: chr5:g.13769257T>C (hg19) ; chr5:g.13769148T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769148T>C , CM000667.2:g.13769148T>C	GRCh38
NC_000005.9:g.13769257T>C , CM000667.1:g.13769257T>C	GRCh37
NC_000005.8:g.13822257T>C	NCBI36
NG_013081.1:g.180333A>G
NG_013081.2:g.180333A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.9721-12A>G MANE Select	ENSP00000265104.4:n.9721-12A>G
ENST00000681290.1:c.9676-12A>G	ENSP00000505288.1:n.9676-12A>G
ENST00000265104.4:c.9721-12A>G	ENSP00000265104.4:n.9721-12A>G
ENST00000504001.3:n.433-12A>G
NM_001369.2:c.9721-12A>G	NP_001360.1:n.9721-12A>G
XM_005248262.2:c.9676-12A>G	XP_005248319.1:n.9676-12A>G
XM_005248262.3:c.9829-12A>G	XP_005248319.2:n.9829-12A>G
XM_017009177.1:c.9829-12A>G	XP_016864666.1:n.9829-12A>G
XM_017009178.1:c.8734-12A>G	XP_016864667.1:n.8734-12A>G
XM_017009179.2:c.8734-12A>G	XP_016864668.1:n.8734-12A>G
XM_017009180.1:c.9829-12A>G	XP_016864669.1:n.9829-12A>G
XM_017009181.1:c.9829-12A>G	XP_016864670.1:n.9829-12A>G
XM_017009182.1:c.9829-12A>G	XP_016864671.1:n.9829-12A>G
XM_017009185.1:c.4918-12A>G	XP_016864674.1:n.4918-12A>G
XM_017009186.1:c.4471-12A>G	XP_016864675.1:n.4471-12A>G
XM_017009188.1:c.3808-12A>G	XP_016864677.1:n.3808-12A>G
XM_024454388.1:c.8734-12A>G	XP_024310156.1:n.8734-12A>G
XM_024454389.1:c.8323-12A>G	XP_024310157.1:n.8323-12A>G
NM_001369.3:c.9721-12A>G MANE Select	NP_001360.1:n.9721-12A>G