Canonical Allele Identifier: CA359229120

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 454773
• ClinVar RCV Id: RCV000546605
• dbSNP Id: rs753397685
• MyVariant Identifiers: chr5:g.13867993C>A (hg19) ; chr5:g.13867884C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13867884C>A , CM000667.2:g.13867884C>A	GRCh38
NC_000005.9:g.13867993C>A , CM000667.1:g.13867993C>A	GRCh37
NC_000005.8:g.13920993C>A	NCBI36
NG_013081.1:g.81597G>T
NG_013081.2:g.81597G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3943G>T MANE Select	ENSP00000265104.4:p.Glu1315Ter
ENST00000681290.1:c.3898G>T	ENSP00000505288.1:p.Glu1300Ter
ENST00000265104.4:c.3943G>T	ENSP00000265104.4:p.Glu1315Ter
NM_001369.2:c.3943G>T	NP_001360.1:p.Glu1315Ter
XM_005248262.2:c.3898G>T	XP_005248319.1:p.Glu1300Ter
XM_011513990.1:c.3943G>T	XP_011512292.1:p.Glu1315Ter
XR_925598.1:n.4150G>T
XM_005248262.3:c.4051G>T	XP_005248319.2:p.Glu1351Ter
XM_017009177.1:c.4051G>T	XP_016864666.1:p.Glu1351Ter
XM_017009178.1:c.2956G>T	XP_016864667.1:p.Glu986Ter
XM_017009179.2:c.2956G>T	XP_016864668.1:p.Glu986Ter
XM_017009180.1:c.4051G>T	XP_016864669.1:p.Glu1351Ter
XM_017009181.1:c.4051G>T	XP_016864670.1:p.Glu1351Ter
XM_017009182.1:c.4051G>T	XP_016864671.1:p.Glu1351Ter
XM_017009183.1:c.4051G>T	XP_016864672.1:p.Glu1351Ter
XM_017009184.1:c.4051G>T	XP_016864673.1:p.Glu1351Ter
XM_017009187.1:c.4051G>T	XP_016864676.1:p.Glu1351Ter
XM_024454388.1:c.2956G>T	XP_024310156.1:p.Glu986Ter
XM_024454389.1:c.2545G>T	XP_024310157.1:p.Glu849Ter
XR_001742034.1:n.4068G>T
XR_001742035.1:n.4068G>T
NM_001369.3:c.3943G>T MANE Select	NP_001360.1:p.Glu1315Ter