Canonical Allele Identifier: CA359211385

Gene: DNAH5

Linked Data

• dbSNP Id: rs1423097180
• gnomAD v2: 5-13841878-C-A
• gnomAD v4: 5-13841769-C-A
• MyVariant Identifiers: chr5:g.13841878C>A (hg19) ; chr5:g.13841769C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841769C>A , CM000667.2:g.13841769C>A	GRCh38
NC_000005.9:g.13841878C>A , CM000667.1:g.13841878C>A	GRCh37
NC_000005.8:g.13894878C>A	NCBI36
NG_013081.1:g.107712G>T
NG_013081.2:g.107712G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.5407G>T MANE Select	ENSP00000265104.4:p.Val1803Leu
ENST00000681290.1:c.5362G>T	ENSP00000505288.1:p.Val1788Leu
ENST00000265104.4:c.5407G>T	ENSP00000265104.4:p.Val1803Leu
NM_001369.2:c.5407G>T	NP_001360.1:p.Val1803Leu
XM_005248262.2:c.5362G>T	XP_005248319.1:p.Val1788Leu
XM_011513990.1:c.5407G>T	XP_011512292.1:p.Val1803Leu
XR_925598.1:n.5614G>T
XM_005248262.3:c.5515G>T	XP_005248319.2:p.Val1839Leu
XM_017009177.1:c.5515G>T	XP_016864666.1:p.Val1839Leu
XM_017009178.1:c.4420G>T	XP_016864667.1:p.Val1474Leu
XM_017009179.2:c.4420G>T	XP_016864668.1:p.Val1474Leu
XM_017009180.1:c.5515G>T	XP_016864669.1:p.Val1839Leu
XM_017009181.1:c.5515G>T	XP_016864670.1:p.Val1839Leu
XM_017009182.1:c.5515G>T	XP_016864671.1:p.Val1839Leu
XM_017009183.1:c.5515G>T	XP_016864672.1:p.Val1839Leu
XM_017009184.1:c.5515G>T	XP_016864673.1:p.Val1839Leu
XM_017009185.1:c.604G>T	XP_016864674.1:p.Val202Leu
XM_017009186.1:c.157G>T	XP_016864675.1:p.Val53Leu
XM_017009187.1:c.5515G>T	XP_016864676.1:p.Val1839Leu
XM_024454388.1:c.4420G>T	XP_024310156.1:p.Val1474Leu
XM_024454389.1:c.4009G>T	XP_024310157.1:p.Val1337Leu
XR_001742034.1:n.5532G>T
XR_001742035.1:n.5532G>T
NM_001369.3:c.5407G>T MANE Select	NP_001360.1:p.Val1803Leu