Canonical Allele Identifier: CA10622671

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 350917
• ClinVar RCV Id: RCV000383695
• dbSNP Id: rs886059934
• MyVariant Identifiers: chr5:g.13692143G>T (hg19) ; chr5:g.13692034G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692034G>T , CM000667.2:g.13692034G>T	GRCh38
NC_000005.9:g.13692143G>T , CM000667.1:g.13692143G>T	GRCh37
NC_000005.8:g.13745143G>T	NCBI36
NG_013081.1:g.257447C>A
NG_013081.2:g.257447C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1158C>A
ENST00000265104.5:c.13825C>A MANE Select	ENSP00000265104.4:p.Pro4609Thr
ENST00000681290.1:c.13780C>A	ENSP00000505288.1:p.Pro4594Thr
ENST00000265104.4:c.13825C>A	ENSP00000265104.4:p.Pro4609Thr
NM_001369.2:c.13825C>A	NP_001360.1:p.Pro4609Thr
XM_005248262.2:c.13780C>A	XP_005248319.1:p.Pro4594Thr
XM_005248262.3:c.13933C>A	XP_005248319.2:p.Pro4645Thr
XM_017009177.1:c.13513C>A	XP_016864666.1:p.Pro4505Thr
XM_017009178.1:c.12838C>A	XP_016864667.1:p.Pro4280Thr
XM_017009179.2:c.12838C>A	XP_016864668.1:p.Pro4280Thr
XM_017009185.1:c.9022C>A	XP_016864674.1:p.Pro3008Thr
XM_017009186.1:c.8575C>A	XP_016864675.1:p.Pro2859Thr
XM_017009188.1:c.7912C>A	XP_016864677.1:p.Pro2638Thr
XM_024454388.1:c.12838C>A	XP_024310156.1:p.Pro4280Thr
XM_024454389.1:c.12427C>A	XP_024310157.1:p.Pro4143Thr
NM_001369.3:c.13825C>A MANE Select	NP_001360.1:p.Pro4609Thr