Canonical Allele Identifier: CA339809

Gene: DNAAF1

Linked Data

• ClinVar Variation Id: 267
• ClinVar RCV Id: RCV000000291 ; RCV000190914
• dbSNP Id: rs267607227
• MyVariant Identifiers: chr16:g.84188353T>G (hg19) ; chr16:g.84154748T>G (hg38)
• PubMed: PMID:19944405 ; PMID:20301301

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84154748T>G , CM000678.2:g.84154748T>G	GRCh38
NC_000016.9:g.84188353T>G , CM000678.1:g.84188353T>G	GRCh37
NC_000016.8:g.82745854T>G	NCBI36
NG_021174.1:g.14489T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378553.10:c.524T>G MANE Select	ENSP00000367815.5:p.Leu175Arg
ENST00000378553.9:c.524T>G	ENSP00000367815.5:p.Leu175Arg
ENST00000563093.5:c.524T>G	ENSP00000457373.1:p.Leu175Arg
ENST00000567918.5:c.524T>G	ENSP00000455154.1:p.Leu175Arg
ENST00000570298.5:n.678T>G
NM_178452.4:c.524T>G	NP_848547.4:p.Leu175Arg
XM_006721129.1:c.524T>G	XP_006721192.1:p.Leu175Arg
XM_011522850.1:c.524T>G	XP_011521152.1:p.Leu175Arg
XM_011522851.1:c.524T>G	XP_011521153.1:p.Leu175Arg
XM_011522852.1:c.524T>G	XP_011521154.1:p.Leu175Arg
XM_011522853.1:c.524T>G	XP_011521155.1:p.Leu175Arg
XM_011522854.1:c.524T>G	XP_011521156.1:p.Leu175Arg
XM_011522855.1:c.524T>G	XP_011521157.1:p.Leu175Arg
XM_011522856.1:c.263T>G	XP_011521158.1:p.Leu88Arg
XM_011522857.1:c.524T>G	XP_011521159.1:p.Leu175Arg
XM_011522858.1:c.524T>G	XP_011521160.1:p.Leu175Arg
NM_178452.5:c.524T>G	NP_848547.4:p.Leu175Arg
XM_006721129.3:c.524T>G	XP_006721192.1:p.Leu175Arg
XM_011522853.3:c.524T>G	XP_011521155.1:p.Leu175Arg
XM_011522854.3:c.524T>G	XP_011521156.1:p.Leu175Arg
XM_011522855.3:c.524T>G	XP_011521157.1:p.Leu175Arg
XM_011522857.3:c.524T>G	XP_011521159.1:p.Leu175Arg
XM_011522858.3:c.524T>G	XP_011521160.1:p.Leu175Arg
XM_017022918.2:c.524T>G	XP_016878407.1:p.Leu175Arg
XM_017022919.1:c.263T>G	XP_016878408.1:p.Leu88Arg
XR_001751829.2:n.698T>G
XR_001751830.2:n.698T>G
XR_001751831.2:n.698T>G
XR_001751832.1:n.1007T>G
NM_178452.6:c.524T>G MANE Select	NP_848547.4:p.Leu175Arg