Canonical Allele Identifier: CA359192148

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 525386
• ClinVar RCV Id: RCV000629442
• dbSNP Id: rs1304504006
• gnomAD v2: 5-13753599-G-A
• gnomAD v3: 5-13753490-G-A
• gnomAD v4: 5-13753490-G-A
• COSMIC: COSM1695413
• MyVariant Identifiers: chr5:g.13753599G>A (hg19) ; chr5:g.13753490G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753490G>A , CM000667.2:g.13753490G>A	GRCh38
NC_000005.9:g.13753599G>A , CM000667.1:g.13753599G>A	GRCh37
NC_000005.8:g.13806599G>A	NCBI36
NG_013081.1:g.195991C>T
NG_013081.2:g.195991C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10615C>T MANE Select	ENSP00000265104.4:p.Arg3539Cys
ENST00000681290.1:c.10570C>T	ENSP00000505288.1:p.Arg3524Cys
ENST00000265104.4:c.10615C>T	ENSP00000265104.4:p.Arg3539Cys
NM_001369.2:c.10615C>T	NP_001360.1:p.Arg3539Cys
XM_005248262.2:c.10570C>T	XP_005248319.1:p.Arg3524Cys
XM_005248262.3:c.10723C>T	XP_005248319.2:p.Arg3575Cys
XM_017009177.1:c.10723C>T	XP_016864666.1:p.Arg3575Cys
XM_017009178.1:c.9628C>T	XP_016864667.1:p.Arg3210Cys
XM_017009179.2:c.9628C>T	XP_016864668.1:p.Arg3210Cys
XM_017009180.1:c.10723C>T	XP_016864669.1:p.Arg3575Cys
XM_017009181.1:c.10723C>T	XP_016864670.1:p.Arg3575Cys
XM_017009182.1:c.10723C>T	XP_016864671.1:p.Arg3575Cys
XM_017009185.1:c.5812C>T	XP_016864674.1:p.Arg1938Cys
XM_017009186.1:c.5365C>T	XP_016864675.1:p.Arg1789Cys
XM_017009188.1:c.4702C>T	XP_016864677.1:p.Arg1568Cys
XM_024454388.1:c.9628C>T	XP_024310156.1:p.Arg3210Cys
XM_024454389.1:c.9217C>T	XP_024310157.1:p.Arg3073Cys
NM_001369.3:c.10615C>T MANE Select	NP_001360.1:p.Arg3539Cys