Canonical Allele Identifier: CA8202513

Gene: DNAAF1

Linked Data

• ClinVar Variation Id: 262955
• ClinVar RCV Id: RCV000247163 ; RCV000313239 ; RCV001443438
• dbSNP Id: rs370128838
• ExAC: 16:84188336 G / C
• gnomAD v2: 16-84188336-G-C
• gnomAD v3: 16-84154731-G-C
• gnomAD v4: 16-84154731-G-C
• MyVariant Identifiers: chr16:g.84188336G>C (hg19) ; chr16:g.84154731G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84154731G>C , CM000678.2:g.84154731G>C	GRCh38
NC_000016.9:g.84188336G>C , CM000678.1:g.84188336G>C	GRCh37
NC_000016.8:g.82745837G>C	NCBI36
NG_021174.1:g.14472G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378553.10:c.507G>C MANE Select	ENSP00000367815.5:p.Leu169=
ENST00000378553.9:c.507G>C	ENSP00000367815.5:p.Leu169=
ENST00000563093.5:c.507G>C	ENSP00000457373.1:p.Leu169=
ENST00000567918.5:c.507G>C	ENSP00000455154.1:p.Leu169=
ENST00000570298.5:n.661G>C
NM_178452.4:c.507G>C	NP_848547.4:p.Leu169=
XM_006721129.1:c.507G>C	XP_006721192.1:p.Leu169=
XM_011522850.1:c.507G>C	XP_011521152.1:p.Leu169=
XM_011522851.1:c.507G>C	XP_011521153.1:p.Leu169=
XM_011522852.1:c.507G>C	XP_011521154.1:p.Leu169=
XM_011522853.1:c.507G>C	XP_011521155.1:p.Leu169=
XM_011522854.1:c.507G>C	XP_011521156.1:p.Leu169=
XM_011522855.1:c.507G>C	XP_011521157.1:p.Leu169=
XM_011522856.1:c.246G>C	XP_011521158.1:p.Leu82=
XM_011522857.1:c.507G>C	XP_011521159.1:p.Leu169=
XM_011522858.1:c.507G>C	XP_011521160.1:p.Leu169=
NM_178452.5:c.507G>C	NP_848547.4:p.Leu169=
XM_006721129.3:c.507G>C	XP_006721192.1:p.Leu169=
XM_011522853.3:c.507G>C	XP_011521155.1:p.Leu169=
XM_011522854.3:c.507G>C	XP_011521156.1:p.Leu169=
XM_011522855.3:c.507G>C	XP_011521157.1:p.Leu169=
XM_011522857.3:c.507G>C	XP_011521159.1:p.Leu169=
XM_011522858.3:c.507G>C	XP_011521160.1:p.Leu169=
XM_017022918.2:c.507G>C	XP_016878407.1:p.Leu169=
XM_017022919.1:c.246G>C	XP_016878408.1:p.Leu82=
XR_001751829.2:n.681G>C
XR_001751830.2:n.681G>C
XR_001751831.2:n.681G>C
XR_001751832.1:n.990G>C
NM_178452.6:c.507G>C MANE Select	NP_848547.4:p.Leu169=