Canonical Allele Identifier: CA3205037

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2138294
• ClinVar RCV Id: RCV003050542
• dbSNP Id: rs776025009
• ExAC: 5:13919335 C / A
• gnomAD v2: 5-13919335-C-A
• gnomAD v3: 5-13919226-C-A
• gnomAD v4: 5-13919226-C-A
• MyVariant Identifiers: chr5:g.13919335C>A (hg19) ; chr5:g.13919226C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919226C>A , CM000667.2:g.13919226C>A	GRCh38
NC_000005.9:g.13919335C>A , CM000667.1:g.13919335C>A	GRCh37
NC_000005.8:g.13972335C>A	NCBI36
NG_013081.1:g.30255G>T
NG_013081.2:g.30255G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.981G>T
ENST00000682376.1:n.969G>T
ENST00000682586.1:n.1018G>T
ENST00000683011.1:n.864G>T
ENST00000683967.1:n.1024G>T
ENST00000684013.1:n.1024G>T
ENST00000684099.1:n.1020G>T
ENST00000265104.5:c.925G>T MANE Select	ENSP00000265104.4:p.Val309Leu
ENST00000680213.1:c.685G>T	ENSP00000506622.1:p.Val229Leu
ENST00000681290.1:c.880G>T	ENSP00000505288.1:p.Val294Leu
ENST00000265104.4:c.925G>T	ENSP00000265104.4:p.Val309Leu
ENST00000508040.1:n.1333G>T
NM_001369.2:c.925G>T	NP_001360.1:p.Val309Leu
XM_005248262.2:c.880G>T	XP_005248319.1:p.Val294Leu
XM_011513990.1:c.925G>T	XP_011512292.1:p.Val309Leu
XR_925598.1:n.1132G>T
XM_005248262.3:c.1033G>T	XP_005248319.2:p.Val345Leu
XM_017009177.1:c.1033G>T	XP_016864666.1:p.Val345Leu
XM_017009178.1:c.-63G>T	XP_016864667.1:n.-63G>T
XM_017009180.1:c.1033G>T	XP_016864669.1:p.Val345Leu
XM_017009181.1:c.1033G>T	XP_016864670.1:p.Val345Leu
XM_017009182.1:c.1033G>T	XP_016864671.1:p.Val345Leu
XM_017009183.1:c.1033G>T	XP_016864672.1:p.Val345Leu
XM_017009184.1:c.1033G>T	XP_016864673.1:p.Val345Leu
XM_017009187.1:c.1033G>T	XP_016864676.1:p.Val345Leu
XM_024454388.1:c.-1982G>T	XP_024310156.1:n.-1982G>T
XM_024454389.1:c.-1035G>T	XP_024310157.1:n.-1035G>T
XR_001742034.1:n.1050G>T
XR_001742035.1:n.1050G>T
NM_001369.3:c.925G>T MANE Select	NP_001360.1:p.Val309Leu