Canonical Allele Identifier: CA3202307

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 238952
• ClinVar RCV Id: RCV000231062
• dbSNP Id: rs755407407
• ExAC: 5:13762886 C / G
• gnomAD v2: 5-13762886-C-G
• gnomAD v3: 5-13762777-C-G
• gnomAD v4: 5-13762777-C-G
• MyVariant Identifiers: chr5:g.13762886C>G (hg19) ; chr5:g.13762777C>G (hg38)
• PubMed: PMID:11788826 ; PMID:12615011 ; PMID:16627867 ; PMID:19357118 ; PMID:23261302 ; PMID:24267886

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13762777C>G , CM000667.2:g.13762777C>G	GRCh38
NC_000005.9:g.13762886C>G , CM000667.1:g.13762886C>G	GRCh37
NC_000005.8:g.13815886C>G	NCBI36
NG_013081.1:g.186704G>C
NG_013081.2:g.186704G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10226G>C MANE Select	ENSP00000265104.4:p.Trp3409Ser
ENST00000681290.1:c.10181G>C	ENSP00000505288.1:p.Trp3394Ser
ENST00000265104.4:c.10226G>C	ENSP00000265104.4:p.Trp3409Ser
ENST00000504001.3:n.734G>C
NM_001369.2:c.10226G>C	NP_001360.1:p.Trp3409Ser
XM_005248262.2:c.10181G>C	XP_005248319.1:p.Trp3394Ser
XM_005248262.3:c.10334G>C	XP_005248319.2:p.Trp3445Ser
XM_017009177.1:c.10334G>C	XP_016864666.1:p.Trp3445Ser
XM_017009178.1:c.9239G>C	XP_016864667.1:p.Trp3080Ser
XM_017009179.2:c.9239G>C	XP_016864668.1:p.Trp3080Ser
XM_017009180.1:c.10334G>C	XP_016864669.1:p.Trp3445Ser
XM_017009181.1:c.10334G>C	XP_016864670.1:p.Trp3445Ser
XM_017009182.1:c.10334G>C	XP_016864671.1:p.Trp3445Ser
XM_017009185.1:c.5423G>C	XP_016864674.1:p.Trp1808Ser
XM_017009186.1:c.4976G>C	XP_016864675.1:p.Trp1659Ser
XM_017009188.1:c.4313G>C	XP_016864677.1:p.Trp1438Ser
XM_024454388.1:c.9239G>C	XP_024310156.1:p.Trp3080Ser
XM_024454389.1:c.8828G>C	XP_024310157.1:p.Trp2943Ser
NM_001369.3:c.10226G>C MANE Select	NP_001360.1:p.Trp3409Ser