Canonical Allele Identifier: CA68749257

Gene: SUMF1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4361955C>T , CM000665.2:g.4361955C>T	GRCh38
NC_000003.11:g.4403639C>T , CM000665.1:g.4403639C>T	GRCh37
NC_000003.10:g.4378639C>T	NCBI36
NG_016225.1:g.110328G>A
NG_016225.2:g.110328G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_182760.4:c.*189G>A MANE Select	NP_877437.2:n.*189G>A
ENST00000272902.10:c.*189G>A MANE Select	ENSP00000272902.5:n.*189G>A
NM_001164674.1:c.*189G>A	NP_001158146.1:n.*189G>A
NM_001164674.2:c.*189G>A	NP_001158146.1:n.*189G>A
NM_001164675.1:c.*189G>A	NP_001158147.1:n.*189G>A
NM_001164675.2:c.*189G>A	NP_001158147.1:n.*189G>A
NM_182760.3:c.*189G>A	NP_877437.2:n.*189G>A
ENST00000272902.9:c.*189G>A	ENSP00000272902.5:n.*189G>A
ENST00000383843.9:c.*189G>A	ENSP00000373355.5:n.*189G>A
ENST00000448413.5:c.1014+14375G>A	ENSP00000404384.1:n.1014+14375G>A
ENST00000458465.6:c.*189G>A	ENSP00000410060.2:n.*189G>A
XM_011533623.1:c.1014+14375G>A	XP_011531925.1:n.1014+14375G>A
XM_011533624.1:c.1014+14375G>A	XP_011531926.1:n.1014+14375G>A
XM_011533624.3:c.1014+14375G>A	XP_011531926.1:n.1014+14375G>A
XM_011533625.1:c.1014+14375G>A	XP_011531927.1:n.1014+14375G>A
XM_011533625.3:c.1014+14375G>A	XP_011531927.1:n.1014+14375G>A
XM_011533626.1:c.1015-10324G>A	XP_011531928.1:n.1015-10324G>A
XM_011533626.3:c.1015-10324G>A	XP_011531928.1:n.1015-10324G>A
XM_017006252.2:c.954+48910G>A	XP_016861741.1:n.954+48910G>A
XM_017006253.1:c.939+14375G>A	XP_016861742.1:n.939+14375G>A
XM_017006254.2:c.1014+14375G>A	XP_016861743.1:n.1014+14375G>A
XM_017006255.2:c.1014+14375G>A	XP_016861744.1:n.1014+14375G>A