Canonical Allele Identifier: CA432448524
Gene: SUMF1 HGNC NCBI

Linked Data

dbSNP Id: rs1392463595

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.4449332C>T , CM000665.2:g.4449332C>T GRCh38
NC_000003.11:g.4491016C>T , CM000665.1:g.4491016C>T GRCh37
NC_000003.10:g.4466016C>T NCBI36
NG_016225.1:g.22951G>A
NG_016225.2:g.22951G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272902.10:c.453G>A MANE Select ENSP00000272902.5:p.Lys151=
ENST00000272902.9:c.453G>A ENSP00000272902.5:p.Lys151=
ENST00000383843.9:c.444+3544G>A ENSP00000373355.5:n.444+3544G>A
ENST00000405420.2:c.453G>A ENSP00000384977.2:p.Lys151=
ENST00000448413.5:c.453G>A ENSP00000404384.1:p.Lys151=
ENST00000458465.6:c.444+3544G>A ENSP00000410060.2:n.444+3544G>A
NM_001164674.1:c.444+3544G>A NP_001158146.1:n.444+3544G>A
NM_001164675.1:c.453G>A NP_001158147.1:p.Lys151=
NM_182760.3:c.453G>A NP_877437.2:p.Lys151=
XM_011533623.1:c.453G>A XP_011531925.1:p.Lys151=
XM_011533624.1:c.453G>A XP_011531926.1:p.Lys151=
XM_011533625.1:c.453G>A XP_011531927.1:p.Lys151=
XM_011533626.1:c.453G>A XP_011531928.1:p.Lys151=
XM_011533624.3:c.453G>A XP_011531926.1:p.Lys151=
XM_011533625.3:c.453G>A XP_011531927.1:p.Lys151=
XM_011533626.3:c.453G>A XP_011531928.1:p.Lys151=
XM_017006252.2:c.453G>A XP_016861741.1:p.Lys151=
XM_017006253.1:c.444+3544G>A XP_016861742.1:n.444+3544G>A
XM_017006254.2:c.453G>A XP_016861743.1:p.Lys151=
XM_017006255.2:c.453G>A XP_016861744.1:p.Lys151=
NM_182760.4:c.453G>A MANE Select NP_877437.2:p.Lys151=
NM_001164674.2:c.444+3544G>A NP_001158146.1:n.444+3544G>A
NM_001164675.2:c.453G>A NP_001158147.1:p.Lys151=