Canonical Allele Identifier: CA10583432

Gene: DNAAF1

Linked Data

• ClinVar Variation Id: 242160
• ClinVar RCV Id: RCV000233863
• dbSNP Id: rs878855278
• gnomAD v2: 16-84182678-A-G
• gnomAD v3: 16-84149073-A-G
• gnomAD v4: 16-84149073-A-G
• MyVariant Identifiers: chr16:g.84182678A>G (hg19) ; chr16:g.84149073A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84149073A>G , CM000678.2:g.84149073A>G	GRCh38
NC_000016.9:g.84182678A>G , CM000678.1:g.84182678A>G	GRCh37
NC_000016.8:g.82740179A>G	NCBI36
NG_021174.1:g.8814A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378553.10:c.191A>G MANE Select	ENSP00000367815.5:p.Gln64Arg
ENST00000378553.9:c.191A>G	ENSP00000367815.5:p.Gln64Arg
ENST00000563093.5:c.191A>G	ENSP00000457373.1:p.Gln64Arg
ENST00000567918.5:c.191A>G	ENSP00000455154.1:p.Gln64Arg
ENST00000570298.5:n.345A>G
NM_178452.4:c.191A>G	NP_848547.4:p.Gln64Arg
XM_006721129.1:c.191A>G	XP_006721192.1:p.Gln64Arg
XM_011522850.1:c.191A>G	XP_011521152.1:p.Gln64Arg
XM_011522851.1:c.191A>G	XP_011521153.1:p.Gln64Arg
XM_011522852.1:c.191A>G	XP_011521154.1:p.Gln64Arg
XM_011522853.1:c.191A>G	XP_011521155.1:p.Gln64Arg
XM_011522854.1:c.191A>G	XP_011521156.1:p.Gln64Arg
XM_011522855.1:c.191A>G	XP_011521157.1:p.Gln64Arg
XM_011522856.1:c.-71A>G	XP_011521158.1:n.-71A>G
XM_011522857.1:c.191A>G	XP_011521159.1:p.Gln64Arg
XM_011522858.1:c.191A>G	XP_011521160.1:p.Gln64Arg
NM_178452.5:c.191A>G	NP_848547.4:p.Gln64Arg
XM_006721129.3:c.191A>G	XP_006721192.1:p.Gln64Arg
XM_011522853.3:c.191A>G	XP_011521155.1:p.Gln64Arg
XM_011522854.3:c.191A>G	XP_011521156.1:p.Gln64Arg
XM_011522855.3:c.191A>G	XP_011521157.1:p.Gln64Arg
XM_011522857.3:c.191A>G	XP_011521159.1:p.Gln64Arg
XM_011522858.3:c.191A>G	XP_011521160.1:p.Gln64Arg
XM_017022918.2:c.191A>G	XP_016878407.1:p.Gln64Arg
XM_017022919.1:c.-71A>G	XP_016878408.1:n.-71A>G
XR_001751829.2:n.365A>G
XR_001751830.2:n.365A>G
XR_001751831.2:n.365A>G
XR_001751832.1:n.674A>G
NM_178452.6:c.191A>G MANE Select	NP_848547.4:p.Gln64Arg