Canonical Allele Identifier: CA443273956

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1581390
• ClinVar RCV Id: RCV002088395
• dbSNP Id: rs2151948998
• MyVariant Identifiers: chr5:g.13891195A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13891086A>G , CM000667.2:g.13891086A>G	GRCh38
NC_000005.9:g.13891195A>G , CM000667.1:g.13891195A>G	GRCh37
NC_000005.8:g.13944195A>G	NCBI36
NG_013081.1:g.58395T>C
NG_013081.2:g.58395T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.2467T>C MANE Select	ENSP00000265104.4:p.Leu823=
ENST00000681290.1:c.2422T>C	ENSP00000505288.1:p.Leu808=
ENST00000265104.4:c.2467T>C	ENSP00000265104.4:p.Leu823=
NM_001369.2:c.2467T>C	NP_001360.1:p.Leu823=
XM_005248262.2:c.2422T>C	XP_005248319.1:p.Leu808=
XM_011513990.1:c.2467T>C	XP_011512292.1:p.Leu823=
XR_925598.1:n.2674T>C
XM_005248262.3:c.2575T>C	XP_005248319.2:p.Leu859=
XM_017009177.1:c.2575T>C	XP_016864666.1:p.Leu859=
XM_017009178.1:c.1480T>C	XP_016864667.1:p.Leu494=
XM_017009179.2:c.1480T>C	XP_016864668.1:p.Leu494=
XM_017009180.1:c.2575T>C	XP_016864669.1:p.Leu859=
XM_017009181.1:c.2575T>C	XP_016864670.1:p.Leu859=
XM_017009182.1:c.2575T>C	XP_016864671.1:p.Leu859=
XM_017009183.1:c.2575T>C	XP_016864672.1:p.Leu859=
XM_017009184.1:c.2575T>C	XP_016864673.1:p.Leu859=
XM_017009187.1:c.2575T>C	XP_016864676.1:p.Leu859=
XM_024454388.1:c.1480T>C	XP_024310156.1:p.Leu494=
XM_024454389.1:c.1069T>C	XP_024310157.1:p.Leu357=
XR_001742034.1:n.2592T>C
XR_001742035.1:n.2592T>C
NM_001369.3:c.2467T>C MANE Select	NP_001360.1:p.Leu823=