Canonical Allele Identifier: CA3202611

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1139938
• ClinVar RCV Id: RCV001476807
• dbSNP Id: rs750009811
• ExAC: 5:13776813 G / T
• gnomAD v2: 5-13776813-G-T
• gnomAD v3: 5-13776704-G-T
• gnomAD v4: 5-13776704-G-T
• MyVariant Identifiers: chr5:g.13776813G>T (hg19) ; chr5:g.13776704G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776704G>T , CM000667.2:g.13776704G>T	GRCh38
NC_000005.9:g.13776813G>T , CM000667.1:g.13776813G>T	GRCh37
NC_000005.8:g.13829813G>T	NCBI36
NG_013081.1:g.172777C>A
NG_013081.2:g.172777C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9108C>A MANE Select	ENSP00000265104.4:p.Val3036=
ENST00000681290.1:c.9063C>A	ENSP00000505288.1:p.Val3021=
ENST00000265104.4:c.9108C>A	ENSP00000265104.4:p.Val3036=
NM_001369.2:c.9108C>A	NP_001360.1:p.Val3036=
XM_005248262.2:c.9063C>A	XP_005248319.1:p.Val3021=
XM_011513990.1:c.9103C>A	XP_011512292.1:p.Leu3035Ile
XR_925598.1:n.9179C>A
XM_005248262.3:c.9216C>A	XP_005248319.2:p.Val3072=
XM_017009177.1:c.9216C>A	XP_016864666.1:p.Val3072=
XM_017009178.1:c.8121C>A	XP_016864667.1:p.Val2707=
XM_017009179.2:c.8121C>A	XP_016864668.1:p.Val2707=
XM_017009180.1:c.9216C>A	XP_016864669.1:p.Val3072=
XM_017009181.1:c.9216C>A	XP_016864670.1:p.Val3072=
XM_017009182.1:c.9216C>A	XP_016864671.1:p.Val3072=
XM_017009183.1:c.9216C>A	XP_016864672.1:p.Val3072=
XM_017009184.1:c.9211C>A	XP_016864673.1:p.Leu3071Ile
XM_017009185.1:c.4305C>A	XP_016864674.1:p.Val1435=
XM_017009186.1:c.3858C>A	XP_016864675.1:p.Val1286=
XM_017009188.1:c.3195C>A	XP_016864677.1:p.Val1065=
XM_024454388.1:c.8121C>A	XP_024310156.1:p.Val2707=
XM_024454389.1:c.7710C>A	XP_024310157.1:p.Val2570=
XR_001742034.1:n.9102C>A
XR_001742035.1:n.9097C>A
NM_001369.3:c.9108C>A MANE Select	NP_001360.1:p.Val3036=