Canonical Allele Identifier: CA113930771

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1768409
• ClinVar RCV Id: RCV002387317
• dbSNP Id: rs746602106
• gnomAD v2: 5-13769109-G-A
• gnomAD v3: 5-13769000-G-A
• gnomAD v4: 5-13769000-G-A
• MyVariant Identifiers: chr5:g.13769109G>A (hg19) ; chr5:g.13769000G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769000G>A , CM000667.2:g.13769000G>A	GRCh38
NC_000005.9:g.13769109G>A , CM000667.1:g.13769109G>A	GRCh37
NC_000005.8:g.13822109G>A	NCBI36
NG_013081.1:g.180481C>T
NG_013081.2:g.180481C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9857C>T MANE Select	ENSP00000265104.4:p.Ala3286Val
ENST00000681290.1:c.9812C>T	ENSP00000505288.1:p.Ala3271Val
ENST00000265104.4:c.9857C>T	ENSP00000265104.4:p.Ala3286Val
ENST00000504001.3:n.569C>T
NM_001369.2:c.9857C>T	NP_001360.1:p.Ala3286Val
XM_005248262.2:c.9812C>T	XP_005248319.1:p.Ala3271Val
XM_005248262.3:c.9965C>T	XP_005248319.2:p.Ala3322Val
XM_017009177.1:c.9965C>T	XP_016864666.1:p.Ala3322Val
XM_017009178.1:c.8870C>T	XP_016864667.1:p.Ala2957Val
XM_017009179.2:c.8870C>T	XP_016864668.1:p.Ala2957Val
XM_017009180.1:c.9965C>T	XP_016864669.1:p.Ala3322Val
XM_017009181.1:c.9965C>T	XP_016864670.1:p.Ala3322Val
XM_017009182.1:c.9965C>T	XP_016864671.1:p.Ala3322Val
XM_017009185.1:c.5054C>T	XP_016864674.1:p.Ala1685Val
XM_017009186.1:c.4607C>T	XP_016864675.1:p.Ala1536Val
XM_017009188.1:c.3944C>T	XP_016864677.1:p.Ala1315Val
XM_024454388.1:c.8870C>T	XP_024310156.1:p.Ala2957Val
XM_024454389.1:c.8459C>T	XP_024310157.1:p.Ala2820Val
NM_001369.3:c.9857C>T MANE Select	NP_001360.1:p.Ala3286Val