Canonical Allele Identifier: CA174633

Gene: DNAH3

Linked Data

• ClinVar Variation Id: 161706
• ClinVar RCV Id: RCV000149242
• dbSNP Id: rs193921090
• COSMIC: COSM1178288 ; COSM1178289
• MyVariant Identifiers: chr16:g.21011699G>T (hg19) ; chr16:g.21000377G>T (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21000377G>T , CM000678.2:g.21000377G>T	GRCh38
NC_000016.9:g.21011699G>T , CM000678.1:g.21011699G>T	GRCh37
NC_000016.8:g.20919200G>T	NCBI36
NG_052617.1:g.164065C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698260.1:c.6130C>A MANE Select	ENSP00000513632.1:p.His2044Asn
ENST00000685858.1:c.6310C>A	ENSP00000508756.1:p.His2104Asn
ENST00000261383.3:c.6268C>A	ENSP00000261383.3:p.His2090Asn
ENST00000572640.5:n.2979C>A
NM_017539.2:c.6268C>A	NP_060009.1:p.His2090Asn
XM_006721062.1:c.6130C>A	XP_006721125.1:p.His2044Asn
XM_011545882.1:c.6151C>A	XP_011544184.1:p.His2051Asn
XM_011545883.1:c.6151C>A	XP_011544185.1:p.His2051Asn
XM_011545884.1:c.5908C>A	XP_011544186.1:p.His1970Asn
XM_011545885.1:c.6151C>A	XP_011544187.1:p.His2051Asn
XM_011545886.1:c.5140C>A	XP_011544188.1:p.His1714Asn
XM_011545887.1:c.4348C>A	XP_011544189.1:p.His1450Asn
XM_011545888.1:c.3553C>A	XP_011544190.1:p.His1185Asn
XM_011545889.1:c.3553C>A	XP_011544191.1:p.His1185Asn
NM_001347886.1:c.6130C>A	NP_001334815.1:p.His2044Asn
XM_011545882.2:c.6151C>A	XP_011544184.1:p.His2051Asn
XM_011545885.3:c.6151C>A	XP_011544187.1:p.His2051Asn
XM_011545886.2:c.5140C>A	XP_011544188.1:p.His1714Asn
XM_011545888.2:c.3553C>A	XP_011544190.1:p.His1185Asn
XM_011545889.2:c.3553C>A	XP_011544191.1:p.His1185Asn
XM_017023426.1:c.6016C>A	XP_016878915.1:p.His2006Asn
XM_017023427.1:c.5908C>A	XP_016878916.1:p.His1970Asn
XM_017023428.1:c.5906-12312C>A	XP_016878917.1:n.5906-12312C>A
XM_017023429.1:c.6151C>A	XP_016878918.1:p.His2051Asn
XM_017023430.1:c.205C>A	XP_016878919.1:p.His69Asn
XM_017023432.1:c.6310C>A	XP_016878921.1:p.His2104Asn
NM_001347886.2:c.6130C>A MANE Select	NP_001334815.1:p.His2044Asn