Canonical Allele Identifier: CA3203774

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 704677
• ClinVar RCV Id: RCV000874808
• dbSNP Id: rs749688197
• ExAC: 5:13845060 G / A
• gnomAD v2: 5-13845060-G-A
• gnomAD v3: 5-13844951-G-A
• gnomAD v4: 5-13844951-G-A
• COSMIC: COSM3609121
• MyVariant Identifiers: chr5:g.13845060G>A (hg19) ; chr5:g.13844951G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13844951G>A , CM000667.2:g.13844951G>A	GRCh38
NC_000005.9:g.13845060G>A , CM000667.1:g.13845060G>A	GRCh37
NC_000005.8:g.13898060G>A	NCBI36
NG_013081.1:g.104530C>T
NG_013081.2:g.104530C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5157C>T MANE Select	ENSP00000265104.4:p.Phe1719=
ENST00000681290.1:c.5112C>T	ENSP00000505288.1:p.Phe1704=
ENST00000265104.4:c.5157C>T	ENSP00000265104.4:p.Phe1719=
NM_001369.2:c.5157C>T	NP_001360.1:p.Phe1719=
XM_005248262.2:c.5112C>T	XP_005248319.1:p.Phe1704=
XM_011513990.1:c.5157C>T	XP_011512292.1:p.Phe1719=
XR_925598.1:n.5364C>T
XM_005248262.3:c.5265C>T	XP_005248319.2:p.Phe1755=
XM_017009177.1:c.5265C>T	XP_016864666.1:p.Phe1755=
XM_017009178.1:c.4170C>T	XP_016864667.1:p.Phe1390=
XM_017009179.2:c.4170C>T	XP_016864668.1:p.Phe1390=
XM_017009180.1:c.5265C>T	XP_016864669.1:p.Phe1755=
XM_017009181.1:c.5265C>T	XP_016864670.1:p.Phe1755=
XM_017009182.1:c.5265C>T	XP_016864671.1:p.Phe1755=
XM_017009183.1:c.5265C>T	XP_016864672.1:p.Phe1755=
XM_017009184.1:c.5265C>T	XP_016864673.1:p.Phe1755=
XM_017009185.1:c.354C>T	XP_016864674.1:p.Phe118=
XM_017009186.1:c.22-3047C>T	XP_016864675.1:n.22-3047C>T
XM_017009187.1:c.5265C>T	XP_016864676.1:p.Phe1755=
XM_024454388.1:c.4170C>T	XP_024310156.1:p.Phe1390=
XM_024454389.1:c.3759C>T	XP_024310157.1:p.Phe1253=
XR_001742034.1:n.5282C>T
XR_001742035.1:n.5282C>T
NM_001369.3:c.5157C>T MANE Select	NP_001360.1:p.Phe1719=