Canonical Allele Identifier: CA113905523

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2890560
• ClinVar RCV Id: RCV003650126
• dbSNP Id: rs1036559068
• gnomAD v4: 5-13692148-T-C
• MyVariant Identifiers: chr5:g.13692257T>C (hg19) ; chr5:g.13692148T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692148T>C , CM000667.2:g.13692148T>C	GRCh38
NC_000005.9:g.13692257T>C , CM000667.1:g.13692257T>C	GRCh37
NC_000005.8:g.13745257T>C	NCBI36
NG_013081.1:g.257333A>G
NG_013081.2:g.257333A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.1057-13A>G
ENST00000265104.5:c.13724-13A>G MANE Select	ENSP00000265104.4:n.13724-13A>G
ENST00000681290.1:c.13679-13A>G	ENSP00000505288.1:n.13679-13A>G
ENST00000265104.4:c.13724-13A>G	ENSP00000265104.4:n.13724-13A>G
NM_001369.2:c.13724-13A>G	NP_001360.1:n.13724-13A>G
XM_005248262.2:c.13679-13A>G	XP_005248319.1:n.13679-13A>G
XM_005248262.3:c.13832-13A>G	XP_005248319.2:n.13832-13A>G
XM_017009177.1:c.13412-13A>G	XP_016864666.1:n.13412-13A>G
XM_017009178.1:c.12737-13A>G	XP_016864667.1:n.12737-13A>G
XM_017009179.2:c.12737-13A>G	XP_016864668.1:n.12737-13A>G
XM_017009185.1:c.8921-13A>G	XP_016864674.1:n.8921-13A>G
XM_017009186.1:c.8474-13A>G	XP_016864675.1:n.8474-13A>G
XM_017009188.1:c.7811-13A>G	XP_016864677.1:n.7811-13A>G
XM_024454388.1:c.12737-13A>G	XP_024310156.1:n.12737-13A>G
XM_024454389.1:c.12326-13A>G	XP_024310157.1:n.12326-13A>G
NM_001369.3:c.13724-13A>G MANE Select	NP_001360.1:n.13724-13A>G