Canonical Allele Identifier: CA443256223

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1118821
• ClinVar RCV Id: RCV001448077
• dbSNP Id: rs1765198066
• gnomAD v3: 5-13841776-C-T
• gnomAD v4: 5-13841776-C-T
• MyVariant Identifiers: chr5:g.13841885C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841776C>T , CM000667.2:g.13841776C>T	GRCh38
NC_000005.9:g.13841885C>T , CM000667.1:g.13841885C>T	GRCh37
NC_000005.8:g.13894885C>T	NCBI36
NG_013081.1:g.107705G>A
NG_013081.2:g.107705G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.5400G>A MANE Select	ENSP00000265104.4:p.Leu1800=
ENST00000681290.1:c.5355G>A	ENSP00000505288.1:p.Leu1785=
ENST00000265104.4:c.5400G>A	ENSP00000265104.4:p.Leu1800=
NM_001369.2:c.5400G>A	NP_001360.1:p.Leu1800=
XM_005248262.2:c.5355G>A	XP_005248319.1:p.Leu1785=
XM_011513990.1:c.5400G>A	XP_011512292.1:p.Leu1800=
XR_925598.1:n.5607G>A
XM_005248262.3:c.5508G>A	XP_005248319.2:p.Leu1836=
XM_017009177.1:c.5508G>A	XP_016864666.1:p.Leu1836=
XM_017009178.1:c.4413G>A	XP_016864667.1:p.Leu1471=
XM_017009179.2:c.4413G>A	XP_016864668.1:p.Leu1471=
XM_017009180.1:c.5508G>A	XP_016864669.1:p.Leu1836=
XM_017009181.1:c.5508G>A	XP_016864670.1:p.Leu1836=
XM_017009182.1:c.5508G>A	XP_016864671.1:p.Leu1836=
XM_017009183.1:c.5508G>A	XP_016864672.1:p.Leu1836=
XM_017009184.1:c.5508G>A	XP_016864673.1:p.Leu1836=
XM_017009185.1:c.597G>A	XP_016864674.1:p.Leu199=
XM_017009186.1:c.150G>A	XP_016864675.1:p.Leu50=
XM_017009187.1:c.5508G>A	XP_016864676.1:p.Leu1836=
XM_024454388.1:c.4413G>A	XP_024310156.1:p.Leu1471=
XM_024454389.1:c.4002G>A	XP_024310157.1:p.Leu1334=
XR_001742034.1:n.5525G>A
XR_001742035.1:n.5525G>A
NM_001369.3:c.5400G>A MANE Select	NP_001360.1:p.Leu1800=