Canonical Allele Identifier: CA359220697

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13793624C>A (hg19) ; chr5:g.13793515C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793515C>A , CM000667.2:g.13793515C>A	GRCh38
NC_000005.9:g.13793624C>A , CM000667.1:g.13793624C>A	GRCh37
NC_000005.8:g.13846624C>A	NCBI36
NG_013081.1:g.155966G>T
NG_013081.2:g.155966G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8224G>T MANE Select	ENSP00000265104.4:p.Gly2742Cys
ENST00000681290.1:c.8179G>T	ENSP00000505288.1:p.Gly2727Cys
ENST00000265104.4:c.8224G>T	ENSP00000265104.4:p.Gly2742Cys
NM_001369.2:c.8224G>T	NP_001360.1:p.Gly2742Cys
XM_005248262.2:c.8179G>T	XP_005248319.1:p.Gly2727Cys
XM_011513990.1:c.8224G>T	XP_011512292.1:p.Gly2742Cys
XR_925598.1:n.8431G>T
XM_005248262.3:c.8332G>T	XP_005248319.2:p.Gly2778Cys
XM_017009177.1:c.8332G>T	XP_016864666.1:p.Gly2778Cys
XM_017009178.1:c.7237G>T	XP_016864667.1:p.Gly2413Cys
XM_017009179.2:c.7237G>T	XP_016864668.1:p.Gly2413Cys
XM_017009180.1:c.8332G>T	XP_016864669.1:p.Gly2778Cys
XM_017009181.1:c.8332G>T	XP_016864670.1:p.Gly2778Cys
XM_017009182.1:c.8332G>T	XP_016864671.1:p.Gly2778Cys
XM_017009183.1:c.8332G>T	XP_016864672.1:p.Gly2778Cys
XM_017009184.1:c.8332G>T	XP_016864673.1:p.Gly2778Cys
XM_017009185.1:c.3421G>T	XP_016864674.1:p.Gly1141Cys
XM_017009186.1:c.2974G>T	XP_016864675.1:p.Gly992Cys
XM_017009188.1:c.2311G>T	XP_016864677.1:p.Gly771Cys
XM_024454388.1:c.7237G>T	XP_024310156.1:p.Gly2413Cys
XM_024454389.1:c.6826G>T	XP_024310157.1:p.Gly2276Cys
XR_001742034.1:n.8349G>T
XR_001742035.1:n.8349G>T
NM_001369.3:c.8224G>T MANE Select	NP_001360.1:p.Gly2742Cys