Canonical Allele Identifier: CA2230698
Gene: SUMF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 263004
dbSNP Id: rs2819590
gnomAD v2: 3-4508742-C-T
gnomAD v3: 3-4467058-C-T
gnomAD v4: 3-4467058-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.4467058C>T , CM000665.2:g.4467058C>T GRCh38
NC_000003.11:g.4508742C>T , CM000665.1:g.4508742C>T GRCh37
NC_000003.10:g.4483742C>T NCBI36
NG_016225.1:g.5225G>A
NG_016225.2:g.5225G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272902.10:c.188G>A MANE Select ENSP00000272902.5:p.Ser63Asn
ENST00000272902.9:c.188G>A ENSP00000272902.5:p.Ser63Asn
ENST00000383843.9:c.188G>A ENSP00000373355.5:p.Ser63Asn
ENST00000405420.2:c.188G>A ENSP00000384977.2:p.Ser63Asn
ENST00000448413.5:c.188G>A ENSP00000404384.1:p.Ser63Asn
ENST00000458465.6:c.188G>A ENSP00000410060.2:p.Ser63Asn
NM_001164674.1:c.188G>A NP_001158146.1:p.Ser63Asn
NM_001164675.1:c.188G>A NP_001158147.1:p.Ser63Asn
NM_182760.3:c.188G>A NP_877437.2:p.Ser63Asn
XM_011533623.1:c.188G>A XP_011531925.1:p.Ser63Asn
XM_011533624.1:c.188G>A XP_011531926.1:p.Ser63Asn
XM_011533625.1:c.188G>A XP_011531927.1:p.Ser63Asn
XM_011533626.1:c.188G>A XP_011531928.1:p.Ser63Asn
XM_011533624.3:c.188G>A XP_011531926.1:p.Ser63Asn
XM_011533625.3:c.188G>A XP_011531927.1:p.Ser63Asn
XM_011533626.3:c.188G>A XP_011531928.1:p.Ser63Asn
XM_017006252.2:c.188G>A XP_016861741.1:p.Ser63Asn
XM_017006253.1:c.188G>A XP_016861742.1:p.Ser63Asn
XM_017006254.2:c.188G>A XP_016861743.1:p.Ser63Asn
XM_017006255.2:c.188G>A XP_016861744.1:p.Ser63Asn
NM_182760.4:c.188G>A MANE Select NP_877437.2:p.Ser63Asn
NM_001164674.2:c.188G>A NP_001158146.1:p.Ser63Asn
NM_001164675.2:c.188G>A NP_001158147.1:p.Ser63Asn