Canonical Allele Identifier: CA443535368

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1133792
• ClinVar RCV Id: RCV001468515
• dbSNP Id: rs1175994969
• gnomAD v3: 5-13870953-G-A
• gnomAD v4: 5-13870953-G-A
• MyVariant Identifiers: chr5:g.13871062G>A (hg19) ; chr5:g.13870953G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13870953G>A , CM000667.2:g.13870953G>A	GRCh38
NC_000005.9:g.13871062G>A , CM000667.1:g.13871062G>A	GRCh37
NC_000005.8:g.13924062G>A	NCBI36
NG_013081.1:g.78528C>T
NG_013081.2:g.78528C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3648C>T MANE Select	ENSP00000265104.4:p.Val1216=
ENST00000681290.1:c.3603C>T	ENSP00000505288.1:p.Val1201=
ENST00000265104.4:c.3648C>T	ENSP00000265104.4:p.Val1216=
NM_001369.2:c.3648C>T	NP_001360.1:p.Val1216=
XM_005248262.2:c.3603C>T	XP_005248319.1:p.Val1201=
XM_011513990.1:c.3648C>T	XP_011512292.1:p.Val1216=
XR_925598.1:n.3855C>T
XM_005248262.3:c.3756C>T	XP_005248319.2:p.Val1252=
XM_017009177.1:c.3756C>T	XP_016864666.1:p.Val1252=
XM_017009178.1:c.2661C>T	XP_016864667.1:p.Val887=
XM_017009179.2:c.2661C>T	XP_016864668.1:p.Val887=
XM_017009180.1:c.3756C>T	XP_016864669.1:p.Val1252=
XM_017009181.1:c.3756C>T	XP_016864670.1:p.Val1252=
XM_017009182.1:c.3756C>T	XP_016864671.1:p.Val1252=
XM_017009183.1:c.3756C>T	XP_016864672.1:p.Val1252=
XM_017009184.1:c.3756C>T	XP_016864673.1:p.Val1252=
XM_017009187.1:c.3756C>T	XP_016864676.1:p.Val1252=
XM_024454388.1:c.2661C>T	XP_024310156.1:p.Val887=
XM_024454389.1:c.2250C>T	XP_024310157.1:p.Val750=
XR_001742034.1:n.3773C>T
XR_001742035.1:n.3773C>T
NM_001369.3:c.3648C>T MANE Select	NP_001360.1:p.Val1216=