Canonical Allele Identifier: CA359204463

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 652322
• ClinVar RCV Id: RCV000807854
• dbSNP Id: rs1580150353
• MyVariant Identifiers: chr5:g.13770929G>T (hg19) ; chr5:g.13770820G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770820G>T , CM000667.2:g.13770820G>T	GRCh38
NC_000005.9:g.13770929G>T , CM000667.1:g.13770929G>T	GRCh37
NC_000005.8:g.13823929G>T	NCBI36
NG_013081.1:g.178661C>A
NG_013081.2:g.178661C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9534C>A MANE Select	ENSP00000265104.4:p.Tyr3178Ter
ENST00000681290.1:c.9489C>A	ENSP00000505288.1:p.Tyr3163Ter
ENST00000265104.4:c.9534C>A	ENSP00000265104.4:p.Tyr3178Ter
ENST00000504001.3:n.246C>A
NM_001369.2:c.9534C>A	NP_001360.1:p.Tyr3178Ter
XM_005248262.2:c.9489C>A	XP_005248319.1:p.Tyr3163Ter
XM_005248262.3:c.9642C>A	XP_005248319.2:p.Tyr3214Ter
XM_017009177.1:c.9642C>A	XP_016864666.1:p.Tyr3214Ter
XM_017009178.1:c.8547C>A	XP_016864667.1:p.Tyr2849Ter
XM_017009179.2:c.8547C>A	XP_016864668.1:p.Tyr2849Ter
XM_017009180.1:c.9642C>A	XP_016864669.1:p.Tyr3214Ter
XM_017009181.1:c.9642C>A	XP_016864670.1:p.Tyr3214Ter
XM_017009182.1:c.9642C>A	XP_016864671.1:p.Tyr3214Ter
XM_017009183.1:c.9642C>A	XP_016864672.1:p.Tyr3214Ter
XM_017009185.1:c.4731C>A	XP_016864674.1:p.Tyr1577Ter
XM_017009186.1:c.4284C>A	XP_016864675.1:p.Tyr1428Ter
XM_017009188.1:c.3621C>A	XP_016864677.1:p.Tyr1207Ter
XM_024454388.1:c.8547C>A	XP_024310156.1:p.Tyr2849Ter
XM_024454389.1:c.8136C>A	XP_024310157.1:p.Tyr2712Ter
NM_001369.3:c.9534C>A MANE Select	NP_001360.1:p.Tyr3178Ter