Canonical Allele Identifier: CA351628216
Gene: SUMF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.4376342G>T , CM000665.2:g.4376342G>T GRCh38
NC_000003.11:g.4418026G>T , CM000665.1:g.4418026G>T GRCh37
NC_000003.10:g.4393026G>T NCBI36
NG_016225.1:g.95941C>A
NG_016225.2:g.95941C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272902.10:c.1002C>A MANE Select ENSP00000272902.5:p.Tyr334Ter
ENST00000272902.9:c.1002C>A ENSP00000272902.5:p.Tyr334Ter
ENST00000383843.9:c.927C>A ENSP00000373355.5:p.Tyr309Ter
ENST00000405420.2:c.955-14088C>A ENSP00000384977.2:n.955-14088C>A
ENST00000448413.5:c.1002C>A ENSP00000404384.1:p.Tyr334Ter
ENST00000458465.6:c.606C>A ENSP00000410060.2:p.Tyr202Ter
NM_001164674.1:c.927C>A NP_001158146.1:p.Tyr309Ter
NM_001164675.1:c.955-14088C>A NP_001158147.1:n.955-14088C>A
NM_182760.3:c.1002C>A NP_877437.2:p.Tyr334Ter
XM_011533623.1:c.1002C>A XP_011531925.1:p.Tyr334Ter
XM_011533624.1:c.1002C>A XP_011531926.1:p.Tyr334Ter
XM_011533625.1:c.1002C>A XP_011531927.1:p.Tyr334Ter
XM_011533626.1:c.1002C>A XP_011531928.1:p.Tyr334Ter
XM_011533624.3:c.1002C>A XP_011531926.1:p.Tyr334Ter
XM_011533625.3:c.1002C>A XP_011531927.1:p.Tyr334Ter
XM_011533626.3:c.1002C>A XP_011531928.1:p.Tyr334Ter
XM_017006252.2:c.954+34523C>A XP_016861741.1:n.954+34523C>A
XM_017006253.1:c.927C>A XP_016861742.1:p.Tyr309Ter
XM_017006254.2:c.1002C>A XP_016861743.1:p.Tyr334Ter
XM_017006255.2:c.1002C>A XP_016861744.1:p.Tyr334Ter
NM_182760.4:c.1002C>A MANE Select NP_877437.2:p.Tyr334Ter
NM_001164674.2:c.927C>A NP_001158146.1:p.Tyr309Ter
NM_001164675.2:c.955-14088C>A NP_001158147.1:n.955-14088C>A