Canonical Allele Identifier: CA3203680

Gene: DNAH5

Linked Data

• dbSNP Id: rs190307087
• ExAC: 5:13841865 G / A
• gnomAD v2: 5-13841865-G-A
• gnomAD v3: 5-13841756-G-A
• gnomAD v4: 5-13841756-G-A
• MyVariant Identifiers: chr5:g.13841865G>A (hg19) ; chr5:g.13841756G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841756G>A , CM000667.2:g.13841756G>A	GRCh38
NC_000005.9:g.13841865G>A , CM000667.1:g.13841865G>A	GRCh37
NC_000005.8:g.13894865G>A	NCBI36
NG_013081.1:g.107725C>T
NG_013081.2:g.107725C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5420C>T MANE Select	ENSP00000265104.4:p.Ala1807Val
ENST00000681290.1:c.5375C>T	ENSP00000505288.1:p.Ala1792Val
ENST00000265104.4:c.5420C>T	ENSP00000265104.4:p.Ala1807Val
NM_001369.2:c.5420C>T	NP_001360.1:p.Ala1807Val
XM_005248262.2:c.5375C>T	XP_005248319.1:p.Ala1792Val
XM_011513990.1:c.5420C>T	XP_011512292.1:p.Ala1807Val
XR_925598.1:n.5627C>T
XM_005248262.3:c.5528C>T	XP_005248319.2:p.Ala1843Val
XM_017009177.1:c.5528C>T	XP_016864666.1:p.Ala1843Val
XM_017009178.1:c.4433C>T	XP_016864667.1:p.Ala1478Val
XM_017009179.2:c.4433C>T	XP_016864668.1:p.Ala1478Val
XM_017009180.1:c.5528C>T	XP_016864669.1:p.Ala1843Val
XM_017009181.1:c.5528C>T	XP_016864670.1:p.Ala1843Val
XM_017009182.1:c.5528C>T	XP_016864671.1:p.Ala1843Val
XM_017009183.1:c.5528C>T	XP_016864672.1:p.Ala1843Val
XM_017009184.1:c.5528C>T	XP_016864673.1:p.Ala1843Val
XM_017009185.1:c.617C>T	XP_016864674.1:p.Ala206Val
XM_017009186.1:c.170C>T	XP_016864675.1:p.Ala57Val
XM_017009187.1:c.5528C>T	XP_016864676.1:p.Ala1843Val
XM_024454388.1:c.4433C>T	XP_024310156.1:p.Ala1478Val
XM_024454389.1:c.4022C>T	XP_024310157.1:p.Ala1341Val
XR_001742034.1:n.5545C>T
XR_001742035.1:n.5545C>T
NM_001369.3:c.5420C>T MANE Select	NP_001360.1:p.Ala1807Val