Canonical Allele Identifier: CA359188582

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2194516
• ClinVar RCV Id: RCV002612532
• MyVariant Identifiers: chr5:g.13692143G>C (hg19) ; chr5:g.13692034G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1158C>G
ENST00000265104.5:c.13825C>G MANE Select	ENSP00000265104.4:p.Pro4609Ala
ENST00000681290.1:c.13780C>G	ENSP00000505288.1:p.Pro4594Ala
ENST00000265104.4:c.13825C>G	ENSP00000265104.4:p.Pro4609Ala
NM_001369.2:c.13825C>G	NP_001360.1:p.Pro4609Ala
XM_005248262.2:c.13780C>G	XP_005248319.1:p.Pro4594Ala
XM_005248262.3:c.13933C>G	XP_005248319.2:p.Pro4645Ala
XM_017009177.1:c.13513C>G	XP_016864666.1:p.Pro4505Ala
XM_017009178.1:c.12838C>G	XP_016864667.1:p.Pro4280Ala
XM_017009179.2:c.12838C>G	XP_016864668.1:p.Pro4280Ala
XM_017009185.1:c.9022C>G	XP_016864674.1:p.Pro3008Ala
XM_017009186.1:c.8575C>G	XP_016864675.1:p.Pro2859Ala
XM_017009188.1:c.7912C>G	XP_016864677.1:p.Pro2638Ala
XM_024454388.1:c.12838C>G	XP_024310156.1:p.Pro4280Ala
XM_024454389.1:c.12427C>G	XP_024310157.1:p.Pro4143Ala
NM_001369.3:c.13825C>G MANE Select	NP_001360.1:p.Pro4609Ala