Canonical Allele Identifier: CA68802149
Community Standard Title: NM_182760.4(SUMF1):c.818A>G (p.Asp273Gly)
Gene: SUMF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.4417150T>C , CM000665.2:g.4417150T>C GRCh38
NC_000003.11:g.4458834T>C , CM000665.1:g.4458834T>C GRCh37
NC_000003.10:g.4433834T>C NCBI36
NG_016225.1:g.55133A>G
NG_016225.2:g.55133A>G

Transcript Alleles

HGVS Amino-acid Change
NM_182760.4:c.818A>G MANE Select NP_877437.2:p.Asp273Gly
ENST00000272902.10:c.818A>G MANE Select ENSP00000272902.5:p.Asp273Gly
NM_001164674.1:c.743A>G NP_001158146.1:p.Asp248Gly
NM_001164674.2:c.743A>G NP_001158146.1:p.Asp248Gly
NM_001164675.1:c.818A>G NP_001158147.1:p.Asp273Gly
NM_001164675.2:c.818A>G NP_001158147.1:p.Asp273Gly
NM_182760.3:c.818A>G NP_877437.2:p.Asp273Gly
ENST00000272902.9:c.818A>G ENSP00000272902.5:p.Asp273Gly
ENST00000383843.9:c.743A>G ENSP00000373355.5:p.Asp248Gly
ENST00000405420.2:c.818A>G ENSP00000384977.2:p.Asp273Gly
ENST00000448413.5:c.818A>G ENSP00000404384.1:p.Asp273Gly
ENST00000458465.6:c.445-6172A>G ENSP00000410060.2:n.445-6172A>G
XM_011533623.1:c.818A>G XP_011531925.1:p.Asp273Gly
XM_011533624.1:c.818A>G XP_011531926.1:p.Asp273Gly
XM_011533624.3:c.818A>G XP_011531926.1:p.Asp273Gly
XM_011533625.1:c.818A>G XP_011531927.1:p.Asp273Gly
XM_011533625.3:c.818A>G XP_011531927.1:p.Asp273Gly
XM_011533626.1:c.818A>G XP_011531928.1:p.Asp273Gly
XM_011533626.3:c.818A>G XP_011531928.1:p.Asp273Gly
XM_017006252.2:c.818A>G XP_016861741.1:p.Asp273Gly
XM_017006253.1:c.743A>G XP_016861742.1:p.Asp248Gly
XM_017006254.2:c.818A>G XP_016861743.1:p.Asp273Gly
XM_017006255.2:c.818A>G XP_016861744.1:p.Asp273Gly