Canonical Allele Identifier: CA443263396

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1639546
• ClinVar RCV Id: RCV002129126
• dbSNP Id: rs2126899814
• COSMIC: COSM5787117
• MyVariant Identifiers: chr5:g.13792151G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792042G>C , CM000667.2:g.13792042G>C	GRCh38
NC_000005.9:g.13792151G>C , CM000667.1:g.13792151G>C	GRCh37
NC_000005.8:g.13845151G>C	NCBI36
NG_013081.1:g.157439C>G
NG_013081.2:g.157439C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8400C>G MANE Select	ENSP00000265104.4:p.Val2800=
ENST00000681290.1:c.8355C>G	ENSP00000505288.1:p.Val2785=
ENST00000265104.4:c.8400C>G	ENSP00000265104.4:p.Val2800=
NM_001369.2:c.8400C>G	NP_001360.1:p.Val2800=
XM_005248262.2:c.8355C>G	XP_005248319.1:p.Val2785=
XM_011513990.1:c.8400C>G	XP_011512292.1:p.Val2800=
XR_925598.1:n.8607C>G
XM_005248262.3:c.8508C>G	XP_005248319.2:p.Val2836=
XM_017009177.1:c.8508C>G	XP_016864666.1:p.Val2836=
XM_017009178.1:c.7413C>G	XP_016864667.1:p.Val2471=
XM_017009179.2:c.7413C>G	XP_016864668.1:p.Val2471=
XM_017009180.1:c.8508C>G	XP_016864669.1:p.Val2836=
XM_017009181.1:c.8508C>G	XP_016864670.1:p.Val2836=
XM_017009182.1:c.8508C>G	XP_016864671.1:p.Val2836=
XM_017009183.1:c.8508C>G	XP_016864672.1:p.Val2836=
XM_017009184.1:c.8508C>G	XP_016864673.1:p.Val2836=
XM_017009185.1:c.3597C>G	XP_016864674.1:p.Val1199=
XM_017009186.1:c.3150C>G	XP_016864675.1:p.Val1050=
XM_017009188.1:c.2487C>G	XP_016864677.1:p.Val829=
XM_024454388.1:c.7413C>G	XP_024310156.1:p.Val2471=
XM_024454389.1:c.7002C>G	XP_024310157.1:p.Val2334=
XR_001742034.1:n.8525C>G
XR_001742035.1:n.8525C>G
NM_001369.3:c.8400C>G MANE Select	NP_001360.1:p.Val2800=