Canonical Allele Identifier: CA359207260

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717516C>T (hg19) ; chr5:g.13717407C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717407C>T , CM000667.2:g.13717407C>T	GRCh38
NC_000005.9:g.13717516C>T , CM000667.1:g.13717516C>T	GRCh37
NC_000005.8:g.13770516C>T	NCBI36
NG_013081.1:g.232074G>A
NG_013081.2:g.232074G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.12613G>A MANE Select	ENSP00000265104.4:p.Gly4205Arg
ENST00000681290.1:c.12568G>A	ENSP00000505288.1:p.Gly4190Arg
ENST00000265104.4:c.12613G>A	ENSP00000265104.4:p.Gly4205Arg
NM_001369.2:c.12613G>A	NP_001360.1:p.Gly4205Arg
XM_005248262.2:c.12568G>A	XP_005248319.1:p.Gly4190Arg
XM_005248262.3:c.12721G>A	XP_005248319.2:p.Gly4241Arg
XM_017009177.1:c.12721G>A	XP_016864666.1:p.Gly4241Arg
XM_017009178.1:c.11626G>A	XP_016864667.1:p.Gly3876Arg
XM_017009179.2:c.11626G>A	XP_016864668.1:p.Gly3876Arg
XM_017009180.1:c.12721G>A	XP_016864669.1:p.Gly4241Arg
XM_017009185.1:c.7810G>A	XP_016864674.1:p.Gly2604Arg
XM_017009186.1:c.7363G>A	XP_016864675.1:p.Gly2455Arg
XM_017009188.1:c.6700G>A	XP_016864677.1:p.Gly2234Arg
XM_024454388.1:c.11626G>A	XP_024310156.1:p.Gly3876Arg
XM_024454389.1:c.11215G>A	XP_024310157.1:p.Gly3739Arg
NM_001369.3:c.12613G>A MANE Select	NP_001360.1:p.Gly4205Arg