Canonical Allele Identifier: CA3202543

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 942737
• ClinVar RCV Id: RCV001212774
• dbSNP Id: rs543265562
• ExAC: 5:13771019 G / A
• gnomAD v2: 5-13771019-G-A
• gnomAD v3: 5-13770910-G-A
• gnomAD v4: 5-13770910-G-A
• COSMIC: COSM4141428
• MyVariant Identifiers: chr5:g.13771019G>A (hg19) ; chr5:g.13770910G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770910G>A , CM000667.2:g.13770910G>A	GRCh38
NC_000005.9:g.13771019G>A , CM000667.1:g.13771019G>A	GRCh37
NC_000005.8:g.13824019G>A	NCBI36
NG_013081.1:g.178571C>T
NG_013081.2:g.178571C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9444C>T MANE Select	ENSP00000265104.4:p.Cys3148=
ENST00000681290.1:c.9399C>T	ENSP00000505288.1:p.Cys3133=
ENST00000265104.4:c.9444C>T	ENSP00000265104.4:p.Cys3148=
ENST00000504001.3:n.156C>T
NM_001369.2:c.9444C>T	NP_001360.1:p.Cys3148=
XM_005248262.2:c.9399C>T	XP_005248319.1:p.Cys3133=
XM_005248262.3:c.9552C>T	XP_005248319.2:p.Cys3184=
XM_017009177.1:c.9552C>T	XP_016864666.1:p.Cys3184=
XM_017009178.1:c.8457C>T	XP_016864667.1:p.Cys2819=
XM_017009179.2:c.8457C>T	XP_016864668.1:p.Cys2819=
XM_017009180.1:c.9552C>T	XP_016864669.1:p.Cys3184=
XM_017009181.1:c.9552C>T	XP_016864670.1:p.Cys3184=
XM_017009182.1:c.9552C>T	XP_016864671.1:p.Cys3184=
XM_017009183.1:c.9552C>T	XP_016864672.1:p.Cys3184=
XM_017009185.1:c.4641C>T	XP_016864674.1:p.Cys1547=
XM_017009186.1:c.4194C>T	XP_016864675.1:p.Cys1398=
XM_017009188.1:c.3531C>T	XP_016864677.1:p.Cys1177=
XM_024454388.1:c.8457C>T	XP_024310156.1:p.Cys2819=
XM_024454389.1:c.8046C>T	XP_024310157.1:p.Cys2682=
NM_001369.3:c.9444C>T MANE Select	NP_001360.1:p.Cys3148=