Canonical Allele Identifier: CA359214305

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2565918
• ClinVar RCV Id: RCV003302119
• dbSNP Id: rs778341195
• gnomAD v2: 5-13845059-C-G
• gnomAD v4: 5-13844950-C-G
• MyVariant Identifiers: chr5:g.13845059C>G (hg19) ; chr5:g.13844950C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13844950C>G , CM000667.2:g.13844950C>G	GRCh38
NC_000005.9:g.13845059C>G , CM000667.1:g.13845059C>G	GRCh37
NC_000005.8:g.13898059C>G	NCBI36
NG_013081.1:g.104531G>C
NG_013081.2:g.104531G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5158G>C MANE Select	ENSP00000265104.4:p.Val1720Leu
ENST00000681290.1:c.5113G>C	ENSP00000505288.1:p.Val1705Leu
ENST00000265104.4:c.5158G>C	ENSP00000265104.4:p.Val1720Leu
NM_001369.2:c.5158G>C	NP_001360.1:p.Val1720Leu
XM_005248262.2:c.5113G>C	XP_005248319.1:p.Val1705Leu
XM_011513990.1:c.5158G>C	XP_011512292.1:p.Val1720Leu
XR_925598.1:n.5365G>C
XM_005248262.3:c.5266G>C	XP_005248319.2:p.Val1756Leu
XM_017009177.1:c.5266G>C	XP_016864666.1:p.Val1756Leu
XM_017009178.1:c.4171G>C	XP_016864667.1:p.Val1391Leu
XM_017009179.2:c.4171G>C	XP_016864668.1:p.Val1391Leu
XM_017009180.1:c.5266G>C	XP_016864669.1:p.Val1756Leu
XM_017009181.1:c.5266G>C	XP_016864670.1:p.Val1756Leu
XM_017009182.1:c.5266G>C	XP_016864671.1:p.Val1756Leu
XM_017009183.1:c.5266G>C	XP_016864672.1:p.Val1756Leu
XM_017009184.1:c.5266G>C	XP_016864673.1:p.Val1756Leu
XM_017009185.1:c.355G>C	XP_016864674.1:p.Val119Leu
XM_017009186.1:c.22-3046G>C	XP_016864675.1:n.22-3046G>C
XM_017009187.1:c.5266G>C	XP_016864676.1:p.Val1756Leu
XM_024454388.1:c.4171G>C	XP_024310156.1:p.Val1391Leu
XM_024454389.1:c.3760G>C	XP_024310157.1:p.Val1254Leu
XR_001742034.1:n.5283G>C
XR_001742035.1:n.5283G>C
NM_001369.3:c.5158G>C MANE Select	NP_001360.1:p.Val1720Leu