Canonical Allele Identifier: CA359191762

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1372831
• ClinVar RCV Id: RCV001874864
• dbSNP Id: rs2126701456
• gnomAD v4: 5-13753415-T-G
• MyVariant Identifiers: chr5:g.13753524T>G (hg19) ; chr5:g.13753415T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753415T>G , CM000667.2:g.13753415T>G	GRCh38
NC_000005.9:g.13753524T>G , CM000667.1:g.13753524T>G	GRCh37
NC_000005.8:g.13806524T>G	NCBI36
NG_013081.1:g.196066A>C
NG_013081.2:g.196066A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10690A>C MANE Select	ENSP00000265104.4:p.Ser3564Arg
ENST00000681290.1:c.10645A>C	ENSP00000505288.1:p.Ser3549Arg
ENST00000265104.4:c.10690A>C	ENSP00000265104.4:p.Ser3564Arg
NM_001369.2:c.10690A>C	NP_001360.1:p.Ser3564Arg
XM_005248262.2:c.10645A>C	XP_005248319.1:p.Ser3549Arg
XM_005248262.3:c.10798A>C	XP_005248319.2:p.Ser3600Arg
XM_017009177.1:c.10798A>C	XP_016864666.1:p.Ser3600Arg
XM_017009178.1:c.9703A>C	XP_016864667.1:p.Ser3235Arg
XM_017009179.2:c.9703A>C	XP_016864668.1:p.Ser3235Arg
XM_017009180.1:c.10798A>C	XP_016864669.1:p.Ser3600Arg
XM_017009181.1:c.10798A>C	XP_016864670.1:p.Ser3600Arg
XM_017009182.1:c.10798A>C	XP_016864671.1:p.Ser3600Arg
XM_017009185.1:c.5887A>C	XP_016864674.1:p.Ser1963Arg
XM_017009186.1:c.5440A>C	XP_016864675.1:p.Ser1814Arg
XM_017009188.1:c.4777A>C	XP_016864677.1:p.Ser1593Arg
XM_024454388.1:c.9703A>C	XP_024310156.1:p.Ser3235Arg
XM_024454389.1:c.9292A>C	XP_024310157.1:p.Ser3098Arg
NM_001369.3:c.10690A>C MANE Select	NP_001360.1:p.Ser3564Arg