Canonical Allele Identifier: CA3202522

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 698059
• ClinVar RCV Id: RCV000865250 ; RCV001151913 ; RCV003955626
• dbSNP Id: rs147865593
• ExAC: 5:13770914 C / T
• gnomAD v2: 5-13770914-C-T
• gnomAD v3: 5-13770805-C-T
• gnomAD v4: 5-13770805-C-T
• MyVariant Identifiers: chr5:g.13770914C>T (hg19) ; chr5:g.13770805C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770805C>T , CM000667.2:g.13770805C>T	GRCh38
NC_000005.9:g.13770914C>T , CM000667.1:g.13770914C>T	GRCh37
NC_000005.8:g.13823914C>T	NCBI36
NG_013081.1:g.178676G>A
NG_013081.2:g.178676G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9549G>A MANE Select	ENSP00000265104.4:p.Gln3183=
ENST00000681290.1:c.9504G>A	ENSP00000505288.1:p.Gln3168=
ENST00000265104.4:c.9549G>A	ENSP00000265104.4:p.Gln3183=
ENST00000504001.3:n.261G>A
NM_001369.2:c.9549G>A	NP_001360.1:p.Gln3183=
XM_005248262.2:c.9504G>A	XP_005248319.1:p.Gln3168=
XM_005248262.3:c.9657G>A	XP_005248319.2:p.Gln3219=
XM_017009177.1:c.9657G>A	XP_016864666.1:p.Gln3219=
XM_017009178.1:c.8562G>A	XP_016864667.1:p.Gln2854=
XM_017009179.2:c.8562G>A	XP_016864668.1:p.Gln2854=
XM_017009180.1:c.9657G>A	XP_016864669.1:p.Gln3219=
XM_017009181.1:c.9657G>A	XP_016864670.1:p.Gln3219=
XM_017009182.1:c.9657G>A	XP_016864671.1:p.Gln3219=
XM_017009183.1:c.9657G>A	XP_016864672.1:p.Gln3219=
XM_017009185.1:c.4746G>A	XP_016864674.1:p.Gln1582=
XM_017009186.1:c.4299G>A	XP_016864675.1:p.Gln1433=
XM_017009188.1:c.3636G>A	XP_016864677.1:p.Gln1212=
XM_024454388.1:c.8562G>A	XP_024310156.1:p.Gln2854=
XM_024454389.1:c.8151G>A	XP_024310157.1:p.Gln2717=
NM_001369.3:c.9549G>A MANE Select	NP_001360.1:p.Gln3183=