Canonical Allele Identifier: CA359220698

Gene: DNAH5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8224G>C MANE Select	ENSP00000265104.4:p.Gly2742Arg
ENST00000681290.1:c.8179G>C	ENSP00000505288.1:p.Gly2727Arg
ENST00000265104.4:c.8224G>C	ENSP00000265104.4:p.Gly2742Arg
NM_001369.2:c.8224G>C	NP_001360.1:p.Gly2742Arg
XM_005248262.2:c.8179G>C	XP_005248319.1:p.Gly2727Arg
XM_011513990.1:c.8224G>C	XP_011512292.1:p.Gly2742Arg
XR_925598.1:n.8431G>C
XM_005248262.3:c.8332G>C	XP_005248319.2:p.Gly2778Arg
XM_017009177.1:c.8332G>C	XP_016864666.1:p.Gly2778Arg
XM_017009178.1:c.7237G>C	XP_016864667.1:p.Gly2413Arg
XM_017009179.2:c.7237G>C	XP_016864668.1:p.Gly2413Arg
XM_017009180.1:c.8332G>C	XP_016864669.1:p.Gly2778Arg
XM_017009181.1:c.8332G>C	XP_016864670.1:p.Gly2778Arg
XM_017009182.1:c.8332G>C	XP_016864671.1:p.Gly2778Arg
XM_017009183.1:c.8332G>C	XP_016864672.1:p.Gly2778Arg
XM_017009184.1:c.8332G>C	XP_016864673.1:p.Gly2778Arg
XM_017009185.1:c.3421G>C	XP_016864674.1:p.Gly1141Arg
XM_017009186.1:c.2974G>C	XP_016864675.1:p.Gly992Arg
XM_017009188.1:c.2311G>C	XP_016864677.1:p.Gly771Arg
XM_024454388.1:c.7237G>C	XP_024310156.1:p.Gly2413Arg
XM_024454389.1:c.6826G>C	XP_024310157.1:p.Gly2276Arg
XR_001742034.1:n.8349G>C
XR_001742035.1:n.8349G>C
NM_001369.3:c.8224G>C MANE Select	NP_001360.1:p.Gly2742Arg