Canonical Allele Identifier: CA3202158

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 844595
• ClinVar RCV Id: RCV001047486 ; RCV002481936
• dbSNP Id: rs144393366
• ExAC: 5:13753556 C / T
• gnomAD v2: 5-13753556-C-T
• gnomAD v3: 5-13753447-C-T
• gnomAD v4: 5-13753447-C-T
• COSMIC: COSM1204072
• MyVariant Identifiers: chr5:g.13753556C>T (hg19) ; chr5:g.13753447C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753447C>T , CM000667.2:g.13753447C>T	GRCh38
NC_000005.9:g.13753556C>T , CM000667.1:g.13753556C>T	GRCh37
NC_000005.8:g.13806556C>T	NCBI36
NG_013081.1:g.196034G>A
NG_013081.2:g.196034G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10658G>A MANE Select	ENSP00000265104.4:p.Arg3553Gln
ENST00000681290.1:c.10613G>A	ENSP00000505288.1:p.Arg3538Gln
ENST00000265104.4:c.10658G>A	ENSP00000265104.4:p.Arg3553Gln
NM_001369.2:c.10658G>A	NP_001360.1:p.Arg3553Gln
XM_005248262.2:c.10613G>A	XP_005248319.1:p.Arg3538Gln
XM_005248262.3:c.10766G>A	XP_005248319.2:p.Arg3589Gln
XM_017009177.1:c.10766G>A	XP_016864666.1:p.Arg3589Gln
XM_017009178.1:c.9671G>A	XP_016864667.1:p.Arg3224Gln
XM_017009179.2:c.9671G>A	XP_016864668.1:p.Arg3224Gln
XM_017009180.1:c.10766G>A	XP_016864669.1:p.Arg3589Gln
XM_017009181.1:c.10766G>A	XP_016864670.1:p.Arg3589Gln
XM_017009182.1:c.10766G>A	XP_016864671.1:p.Arg3589Gln
XM_017009185.1:c.5855G>A	XP_016864674.1:p.Arg1952Gln
XM_017009186.1:c.5408G>A	XP_016864675.1:p.Arg1803Gln
XM_017009188.1:c.4745G>A	XP_016864677.1:p.Arg1582Gln
XM_024454388.1:c.9671G>A	XP_024310156.1:p.Arg3224Gln
XM_024454389.1:c.9260G>A	XP_024310157.1:p.Arg3087Gln
NM_001369.3:c.10658G>A MANE Select	NP_001360.1:p.Arg3553Gln