Canonical Allele Identifier: CA3201929

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1148168
• ClinVar RCV Id: RCV001487905
• dbSNP Id: rs745961446
• ExAC: 5:13735941 G / A
• gnomAD v2: 5-13735941-G-A
• gnomAD v3: 5-13735832-G-A
• gnomAD v4: 5-13735832-G-A
• MyVariant Identifiers: chr5:g.13735941G>A (hg19) ; chr5:g.13735832G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735832G>A , CM000667.2:g.13735832G>A	GRCh38
NC_000005.9:g.13735941G>A , CM000667.1:g.13735941G>A	GRCh37
NC_000005.8:g.13788941G>A	NCBI36
NG_013081.1:g.213649C>T
NG_013081.2:g.213649C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11556C>T MANE Select	ENSP00000265104.4:p.Asp3852=
ENST00000681290.1:c.11511C>T	ENSP00000505288.1:p.Asp3837=
ENST00000265104.4:c.11556C>T	ENSP00000265104.4:p.Asp3852=
NM_001369.2:c.11556C>T	NP_001360.1:p.Asp3852=
XM_005248262.2:c.11511C>T	XP_005248319.1:p.Asp3837=
XM_005248262.3:c.11664C>T	XP_005248319.2:p.Asp3888=
XM_017009177.1:c.11664C>T	XP_016864666.1:p.Asp3888=
XM_017009178.1:c.10569C>T	XP_016864667.1:p.Asp3523=
XM_017009179.2:c.10569C>T	XP_016864668.1:p.Asp3523=
XM_017009180.1:c.11664C>T	XP_016864669.1:p.Asp3888=
XM_017009181.1:c.11664C>T	XP_016864670.1:p.Asp3888=
XM_017009182.1:c.11420C>T	XP_016864671.1:p.Thr3807Ile
XM_017009185.1:c.6753C>T	XP_016864674.1:p.Asp2251=
XM_017009186.1:c.6306C>T	XP_016864675.1:p.Asp2102=
XM_017009188.1:c.5643C>T	XP_016864677.1:p.Asp1881=
XM_024454388.1:c.10569C>T	XP_024310156.1:p.Asp3523=
XM_024454389.1:c.10158C>T	XP_024310157.1:p.Asp3386=
NM_001369.3:c.11556C>T MANE Select	NP_001360.1:p.Asp3852=