Canonical Allele Identifier: CA359188743

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1456645
• ClinVar RCV Id: RCV001951251
• dbSNP Id: rs369094478
• MyVariant Identifiers: chr5:g.13692222G>T (hg19) ; chr5:g.13692113G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692113G>T , CM000667.2:g.13692113G>T	GRCh38
NC_000005.9:g.13692222G>T , CM000667.1:g.13692222G>T	GRCh37
NC_000005.8:g.13745222G>T	NCBI36
NG_013081.1:g.257368C>A
NG_013081.2:g.257368C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1079C>A
ENST00000265104.5:c.13746C>A MANE Select	ENSP00000265104.4:p.Tyr4582Ter
ENST00000681290.1:c.13701C>A	ENSP00000505288.1:p.Tyr4567Ter
ENST00000265104.4:c.13746C>A	ENSP00000265104.4:p.Tyr4582Ter
NM_001369.2:c.13746C>A	NP_001360.1:p.Tyr4582Ter
XM_005248262.2:c.13701C>A	XP_005248319.1:p.Tyr4567Ter
XM_005248262.3:c.13854C>A	XP_005248319.2:p.Tyr4618Ter
XM_017009177.1:c.13434C>A	XP_016864666.1:p.Tyr4478Ter
XM_017009178.1:c.12759C>A	XP_016864667.1:p.Tyr4253Ter
XM_017009179.2:c.12759C>A	XP_016864668.1:p.Tyr4253Ter
XM_017009185.1:c.8943C>A	XP_016864674.1:p.Tyr2981Ter
XM_017009186.1:c.8496C>A	XP_016864675.1:p.Tyr2832Ter
XM_017009188.1:c.7833C>A	XP_016864677.1:p.Tyr2611Ter
XM_024454388.1:c.12759C>A	XP_024310156.1:p.Tyr4253Ter
XM_024454389.1:c.12348C>A	XP_024310157.1:p.Tyr4116Ter
NM_001369.3:c.13746C>A MANE Select	NP_001360.1:p.Tyr4582Ter