Canonical Allele Identifier: CA253865

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 6478
• ClinVar RCV Id: RCV000006851 ; RCV001851706
• dbSNP Id: rs79967166
• MyVariant Identifiers: chr5:g.13754312C>G (hg19) ; chr5:g.13754203C>G (hg38)
• PubMed: PMID:11788826

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13754203C>G , CM000667.2:g.13754203C>G	GRCh38
NC_000005.9:g.13754312C>G , CM000667.1:g.13754312C>G	GRCh37
NC_000005.8:g.13807312C>G	NCBI36
NG_013081.1:g.195278G>C
NG_013081.2:g.195278G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10555G>C MANE Select	ENSP00000265104.4:p.Gly3519Arg
ENST00000681290.1:c.10510G>C	ENSP00000505288.1:p.Gly3504Arg
ENST00000265104.4:c.10555G>C	ENSP00000265104.4:p.Gly3519Arg
NM_001369.2:c.10555G>C	NP_001360.1:p.Gly3519Arg
XM_005248262.2:c.10510G>C	XP_005248319.1:p.Gly3504Arg
XM_005248262.3:c.10663G>C	XP_005248319.2:p.Gly3555Arg
XM_017009177.1:c.10663G>C	XP_016864666.1:p.Gly3555Arg
XM_017009178.1:c.9568G>C	XP_016864667.1:p.Gly3190Arg
XM_017009179.2:c.9568G>C	XP_016864668.1:p.Gly3190Arg
XM_017009180.1:c.10663G>C	XP_016864669.1:p.Gly3555Arg
XM_017009181.1:c.10663G>C	XP_016864670.1:p.Gly3555Arg
XM_017009182.1:c.10663G>C	XP_016864671.1:p.Gly3555Arg
XM_017009185.1:c.5752G>C	XP_016864674.1:p.Gly1918Arg
XM_017009186.1:c.5305G>C	XP_016864675.1:p.Gly1769Arg
XM_017009188.1:c.4642G>C	XP_016864677.1:p.Gly1548Arg
XM_024454388.1:c.9568G>C	XP_024310156.1:p.Gly3190Arg
XM_024454389.1:c.9157G>C	XP_024310157.1:p.Gly3053Arg
NM_001369.3:c.10555G>C MANE Select	NP_001360.1:p.Gly3519Arg