Canonical Allele Identifier: CA3201244

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 238964
• ClinVar RCV Id: RCV000229430 ; RCV000670498
• dbSNP Id: rs367709427
• ExAC: 5:13692193 C / T
• gnomAD v2: 5-13692193-C-T
• gnomAD v3: 5-13692084-C-T
• gnomAD v4: 5-13692084-C-T
• COSMIC: COSM1176716
• MyVariant Identifiers: chr5:g.13692193C>T (hg19) ; chr5:g.13692084C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692084C>T , CM000667.2:g.13692084C>T	GRCh38
NC_000005.9:g.13692193C>T , CM000667.1:g.13692193C>T	GRCh37
NC_000005.8:g.13745193C>T	NCBI36
NG_013081.1:g.257397G>A
NG_013081.2:g.257397G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.1108G>A
ENST00000265104.5:c.13775G>A MANE Select	ENSP00000265104.4:p.Arg4592Gln
ENST00000681290.1:c.13730G>A	ENSP00000505288.1:p.Arg4577Gln
ENST00000265104.4:c.13775G>A	ENSP00000265104.4:p.Arg4592Gln
NM_001369.2:c.13775G>A	NP_001360.1:p.Arg4592Gln
XM_005248262.2:c.13730G>A	XP_005248319.1:p.Arg4577Gln
XM_005248262.3:c.13883G>A	XP_005248319.2:p.Arg4628Gln
XM_017009177.1:c.13463G>A	XP_016864666.1:p.Arg4488Gln
XM_017009178.1:c.12788G>A	XP_016864667.1:p.Arg4263Gln
XM_017009179.2:c.12788G>A	XP_016864668.1:p.Arg4263Gln
XM_017009185.1:c.8972G>A	XP_016864674.1:p.Arg2991Gln
XM_017009186.1:c.8525G>A	XP_016864675.1:p.Arg2842Gln
XM_017009188.1:c.7862G>A	XP_016864677.1:p.Arg2621Gln
XM_024454388.1:c.12788G>A	XP_024310156.1:p.Arg4263Gln
XM_024454389.1:c.12377G>A	XP_024310157.1:p.Arg4126Gln
NM_001369.3:c.13775G>A MANE Select	NP_001360.1:p.Arg4592Gln