Canonical Allele Identifier: CA359188713

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 454746
• ClinVar RCV Id: RCV000549980
• dbSNP Id: rs1320036244
• MyVariant Identifiers: chr5:g.13692208T>C (hg19) ; chr5:g.13692099T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692099T>C , CM000667.2:g.13692099T>C	GRCh38
NC_000005.9:g.13692208T>C , CM000667.1:g.13692208T>C	GRCh37
NC_000005.8:g.13745208T>C	NCBI36
NG_013081.1:g.257382A>G
NG_013081.2:g.257382A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1093A>G
ENST00000265104.5:c.13760A>G MANE Select	ENSP00000265104.4:p.Tyr4587Cys
ENST00000681290.1:c.13715A>G	ENSP00000505288.1:p.Tyr4572Cys
ENST00000265104.4:c.13760A>G	ENSP00000265104.4:p.Tyr4587Cys
NM_001369.2:c.13760A>G	NP_001360.1:p.Tyr4587Cys
XM_005248262.2:c.13715A>G	XP_005248319.1:p.Tyr4572Cys
XM_005248262.3:c.13868A>G	XP_005248319.2:p.Tyr4623Cys
XM_017009177.1:c.13448A>G	XP_016864666.1:p.Tyr4483Cys
XM_017009178.1:c.12773A>G	XP_016864667.1:p.Tyr4258Cys
XM_017009179.2:c.12773A>G	XP_016864668.1:p.Tyr4258Cys
XM_017009185.1:c.8957A>G	XP_016864674.1:p.Tyr2986Cys
XM_017009186.1:c.8510A>G	XP_016864675.1:p.Tyr2837Cys
XM_017009188.1:c.7847A>G	XP_016864677.1:p.Tyr2616Cys
XM_024454388.1:c.12773A>G	XP_024310156.1:p.Tyr4258Cys
XM_024454389.1:c.12362A>G	XP_024310157.1:p.Tyr4121Cys
NM_001369.3:c.13760A>G MANE Select	NP_001360.1:p.Tyr4587Cys