Canonical Allele Identifier: CA16611863

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 407247
• ClinVar RCV Id: RCV000462143
• dbSNP Id: rs1060501467
• MyVariant Identifiers: chr5:g.13708239C>T (hg19) ; chr5:g.13708130C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708130C>T , CM000667.2:g.13708130C>T	GRCh38
NC_000005.9:g.13708239C>T , CM000667.1:g.13708239C>T	GRCh37
NC_000005.8:g.13761239C>T	NCBI36
NG_013081.1:g.241351G>A
NG_013081.2:g.241351G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.664G>A
ENST00000265104.5:c.13331G>A MANE Select	ENSP00000265104.4:p.Trp4444Ter
ENST00000681290.1:c.13286G>A	ENSP00000505288.1:p.Trp4429Ter
ENST00000265104.4:c.13331G>A	ENSP00000265104.4:p.Trp4444Ter
NM_001369.2:c.13331G>A	NP_001360.1:p.Trp4444Ter
XM_005248262.2:c.13286G>A	XP_005248319.1:p.Trp4429Ter
XM_005248262.3:c.13439G>A	XP_005248319.2:p.Trp4480Ter
XM_017009177.1:c.13019G>A	XP_016864666.1:p.Trp4340Ter
XM_017009178.1:c.12344G>A	XP_016864667.1:p.Trp4115Ter
XM_017009179.2:c.12344G>A	XP_016864668.1:p.Trp4115Ter
XM_017009185.1:c.8528G>A	XP_016864674.1:p.Trp2843Ter
XM_017009186.1:c.8081G>A	XP_016864675.1:p.Trp2694Ter
XM_017009188.1:c.7418G>A	XP_016864677.1:p.Trp2473Ter
XM_024454388.1:c.12344G>A	XP_024310156.1:p.Trp4115Ter
XM_024454389.1:c.11933G>A	XP_024310157.1:p.Trp3978Ter
NM_001369.3:c.13331G>A MANE Select	NP_001360.1:p.Trp4444Ter