Canonical Allele Identifier: CA3205206

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 454766
• ClinVar RCV Id: RCV000550569
• dbSNP Id: rs116128702
• ExAC: 5:13923478 C / T
• gnomAD v2: 5-13923478-C-T
• gnomAD v3: 5-13923369-C-T
• gnomAD v4: 5-13923369-C-T
• COSMIC: COSM3609267
• MyVariant Identifiers: chr5:g.13923478C>T (hg19) ; chr5:g.13923369C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13923369C>T , CM000667.2:g.13923369C>T	GRCh38
NC_000005.9:g.13923478C>T , CM000667.1:g.13923478C>T	GRCh37
NC_000005.8:g.13976478C>T	NCBI36
NG_013081.1:g.26112G>A
NG_013081.2:g.26112G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.405G>A
ENST00000682376.1:n.393G>A
ENST00000682586.1:n.393G>A
ENST00000683011.1:n.335-47G>A
ENST00000683967.1:n.399G>A
ENST00000684013.1:n.399G>A
ENST00000684099.1:n.444G>A
ENST00000265104.5:c.349G>A MANE Select	ENSP00000265104.4:p.Glu117Lys
ENST00000680213.1:c.109G>A	ENSP00000506622.1:p.Glu37Lys
ENST00000681290.1:c.304G>A	ENSP00000505288.1:p.Glu102Lys
ENST00000265104.4:c.349G>A	ENSP00000265104.4:p.Glu117Lys
ENST00000508040.1:n.708G>A
NM_001369.2:c.349G>A	NP_001360.1:p.Glu117Lys
XM_005248262.2:c.304G>A	XP_005248319.1:p.Glu102Lys
XM_011513990.1:c.349G>A	XP_011512292.1:p.Glu117Lys
XR_925598.1:n.556G>A
XM_005248262.3:c.457G>A	XP_005248319.2:p.Glu153Lys
XM_017009177.1:c.457G>A	XP_016864666.1:p.Glu153Lys
XM_017009178.1:c.-688G>A	XP_016864667.1:n.-688G>A
XM_017009180.1:c.457G>A	XP_016864669.1:p.Glu153Lys
XM_017009181.1:c.457G>A	XP_016864670.1:p.Glu153Lys
XM_017009182.1:c.457G>A	XP_016864671.1:p.Glu153Lys
XM_017009183.1:c.457G>A	XP_016864672.1:p.Glu153Lys
XM_017009184.1:c.457G>A	XP_016864673.1:p.Glu153Lys
XM_017009187.1:c.457G>A	XP_016864676.1:p.Glu153Lys
XM_024454388.1:c.-2558G>A	XP_024310156.1:n.-2558G>A
XM_024454389.1:c.-1611G>A	XP_024310157.1:n.-1611G>A
XR_001742034.1:n.474G>A
XR_001742035.1:n.474G>A
NM_001369.3:c.349G>A MANE Select	NP_001360.1:p.Glu117Lys