Canonical Allele Identifier: CA557876493

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2872161
• ClinVar RCV Id: RCV003654034
• dbSNP Id: rs1304664006
• gnomAD v2: 5-13753675-A-T
• gnomAD v3: 5-13753566-A-T
• gnomAD v4: 5-13753566-A-T
• MyVariant Identifiers: chr5:g.13753675A>T (hg19) ; chr5:g.13753566A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753566A>T , CM000667.2:g.13753566A>T	GRCh38
NC_000005.9:g.13753675A>T , CM000667.1:g.13753675A>T	GRCh37
NC_000005.8:g.13806675A>T	NCBI36
NG_013081.1:g.195915T>A
NG_013081.2:g.195915T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.10556-17T>A MANE Select	ENSP00000265104.4:n.10556-17T>A
ENST00000681290.1:c.10511-17T>A	ENSP00000505288.1:n.10511-17T>A
ENST00000265104.4:c.10556-17T>A	ENSP00000265104.4:n.10556-17T>A
NM_001369.2:c.10556-17T>A	NP_001360.1:n.10556-17T>A
XM_005248262.2:c.10511-17T>A	XP_005248319.1:n.10511-17T>A
XM_005248262.3:c.10664-17T>A	XP_005248319.2:n.10664-17T>A
XM_017009177.1:c.10664-17T>A	XP_016864666.1:n.10664-17T>A
XM_017009178.1:c.9569-17T>A	XP_016864667.1:n.9569-17T>A
XM_017009179.2:c.9569-17T>A	XP_016864668.1:n.9569-17T>A
XM_017009180.1:c.10664-17T>A	XP_016864669.1:n.10664-17T>A
XM_017009181.1:c.10664-17T>A	XP_016864670.1:n.10664-17T>A
XM_017009182.1:c.10664-17T>A	XP_016864671.1:n.10664-17T>A
XM_017009185.1:c.5753-17T>A	XP_016864674.1:n.5753-17T>A
XM_017009186.1:c.5306-17T>A	XP_016864675.1:n.5306-17T>A
XM_017009188.1:c.4643-17T>A	XP_016864677.1:n.4643-17T>A
XM_024454388.1:c.9569-17T>A	XP_024310156.1:n.9569-17T>A
XM_024454389.1:c.9158-17T>A	XP_024310157.1:n.9158-17T>A
NM_001369.3:c.10556-17T>A MANE Select	NP_001360.1:n.10556-17T>A