Canonical Allele Identifier: CA233907

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 167002
• ClinVar RCV Id: RCV000153159 ; RCV001232228
• dbSNP Id: rs727503902
• gnomAD v2: 5-13769070-T-C
• gnomAD v4: 5-13768961-T-C
• MyVariant Identifiers: chr5:g.13769070T>C (hg19) ; chr5:g.13768961T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13768961T>C , CM000667.2:g.13768961T>C	GRCh38
NC_000005.9:g.13769070T>C , CM000667.1:g.13769070T>C	GRCh37
NC_000005.8:g.13822070T>C	NCBI36
NG_013081.1:g.180520A>G
NG_013081.2:g.180520A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9896A>G MANE Select	ENSP00000265104.4:p.Gln3299Arg
ENST00000681290.1:c.9851A>G	ENSP00000505288.1:p.Gln3284Arg
ENST00000265104.4:c.9896A>G	ENSP00000265104.4:p.Gln3299Arg
ENST00000504001.3:n.608A>G
NM_001369.2:c.9896A>G	NP_001360.1:p.Gln3299Arg
XM_005248262.2:c.9851A>G	XP_005248319.1:p.Gln3284Arg
XM_005248262.3:c.10004A>G	XP_005248319.2:p.Gln3335Arg
XM_017009177.1:c.10004A>G	XP_016864666.1:p.Gln3335Arg
XM_017009178.1:c.8909A>G	XP_016864667.1:p.Gln2970Arg
XM_017009179.2:c.8909A>G	XP_016864668.1:p.Gln2970Arg
XM_017009180.1:c.10004A>G	XP_016864669.1:p.Gln3335Arg
XM_017009181.1:c.10004A>G	XP_016864670.1:p.Gln3335Arg
XM_017009182.1:c.10004A>G	XP_016864671.1:p.Gln3335Arg
XM_017009185.1:c.5093A>G	XP_016864674.1:p.Gln1698Arg
XM_017009186.1:c.4646A>G	XP_016864675.1:p.Gln1549Arg
XM_017009188.1:c.3983A>G	XP_016864677.1:p.Gln1328Arg
XM_024454388.1:c.8909A>G	XP_024310156.1:p.Gln2970Arg
XM_024454389.1:c.8498A>G	XP_024310157.1:p.Gln2833Arg
NM_001369.3:c.9896A>G MANE Select	NP_001360.1:p.Gln3299Arg