Canonical Allele Identifier: CA3202699

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 949808
• ClinVar RCV Id: RCV001221360
• dbSNP Id: rs758324905
• ExAC: 5:13781062 G / A
• gnomAD v2: 5-13781062-G-A
• gnomAD v3: 5-13780953-G-A
• gnomAD v4: 5-13780953-G-A
• COSMIC: COSM1061398
• MyVariant Identifiers: chr5:g.13781062G>A (hg19) ; chr5:g.13780953G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13780953G>A , CM000667.2:g.13780953G>A	GRCh38
NC_000005.9:g.13781062G>A , CM000667.1:g.13781062G>A	GRCh37
NC_000005.8:g.13834062G>A	NCBI36
NG_013081.1:g.168528C>T
NG_013081.2:g.168528C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8827C>T MANE Select	ENSP00000265104.4:p.Arg2943Cys
ENST00000681290.1:c.8782C>T	ENSP00000505288.1:p.Arg2928Cys
ENST00000265104.4:c.8827C>T	ENSP00000265104.4:p.Arg2943Cys
NM_001369.2:c.8827C>T	NP_001360.1:p.Arg2943Cys
XM_005248262.2:c.8782C>T	XP_005248319.1:p.Arg2928Cys
XM_011513990.1:c.8827C>T	XP_011512292.1:p.Arg2943Cys
XR_925598.1:n.9028-3598C>T
XM_005248262.3:c.8935C>T	XP_005248319.2:p.Arg2979Cys
XM_017009177.1:c.8935C>T	XP_016864666.1:p.Arg2979Cys
XM_017009178.1:c.7840C>T	XP_016864667.1:p.Arg2614Cys
XM_017009179.2:c.7840C>T	XP_016864668.1:p.Arg2614Cys
XM_017009180.1:c.8935C>T	XP_016864669.1:p.Arg2979Cys
XM_017009181.1:c.8935C>T	XP_016864670.1:p.Arg2979Cys
XM_017009182.1:c.8935C>T	XP_016864671.1:p.Arg2979Cys
XM_017009183.1:c.8935C>T	XP_016864672.1:p.Arg2979Cys
XM_017009184.1:c.8935C>T	XP_016864673.1:p.Arg2979Cys
XM_017009185.1:c.4024C>T	XP_016864674.1:p.Arg1342Cys
XM_017009186.1:c.3577C>T	XP_016864675.1:p.Arg1193Cys
XM_017009188.1:c.2914C>T	XP_016864677.1:p.Arg972Cys
XM_024454388.1:c.7840C>T	XP_024310156.1:p.Arg2614Cys
XM_024454389.1:c.7429C>T	XP_024310157.1:p.Arg2477Cys
XR_001742034.1:n.8946-3598C>T
XR_001742035.1:n.8946-3598C>T
NM_001369.3:c.8827C>T MANE Select	NP_001360.1:p.Arg2943Cys