Canonical Allele Identifier: CA113919224

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 525262
• ClinVar RCV Id: RCV000629313
• dbSNP Id: rs79185772
• MyVariant Identifiers: chr5:g.13717515C>A (hg19) ; chr5:g.13717406C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717406C>A , CM000667.2:g.13717406C>A	GRCh38
NC_000005.9:g.13717515C>A , CM000667.1:g.13717515C>A	GRCh37
NC_000005.8:g.13770515C>A	NCBI36
NG_013081.1:g.232075G>T
NG_013081.2:g.232075G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12614G>T MANE Select	ENSP00000265104.4:p.Gly4205Val
ENST00000681290.1:c.12569G>T	ENSP00000505288.1:p.Gly4190Val
ENST00000265104.4:c.12614G>T	ENSP00000265104.4:p.Gly4205Val
NM_001369.2:c.12614G>T	NP_001360.1:p.Gly4205Val
XM_005248262.2:c.12569G>T	XP_005248319.1:p.Gly4190Val
XM_005248262.3:c.12722G>T	XP_005248319.2:p.Gly4241Val
XM_017009177.1:c.12722G>T	XP_016864666.1:p.Gly4241Val
XM_017009178.1:c.11627G>T	XP_016864667.1:p.Gly3876Val
XM_017009179.2:c.11627G>T	XP_016864668.1:p.Gly3876Val
XM_017009180.1:c.12722G>T	XP_016864669.1:p.Gly4241Val
XM_017009185.1:c.7811G>T	XP_016864674.1:p.Gly2604Val
XM_017009186.1:c.7364G>T	XP_016864675.1:p.Gly2455Val
XM_017009188.1:c.6701G>T	XP_016864677.1:p.Gly2234Val
XM_024454388.1:c.11627G>T	XP_024310156.1:p.Gly3876Val
XM_024454389.1:c.11216G>T	XP_024310157.1:p.Gly3739Val
NM_001369.3:c.12614G>T MANE Select	NP_001360.1:p.Gly4205Val