Canonical Allele Identifier: CA1342126303
Gene: SUMF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.4368850C>A , CM000665.2:g.4368850C>A GRCh38
NC_000003.11:g.4410534C>A , CM000665.1:g.4410534C>A GRCh37
NC_000003.10:g.4385534C>A NCBI36
NG_016225.1:g.103433G>T
NG_016225.2:g.103433G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272902.10:c.1015-6596G>T MANE Select ENSP00000272902.5:n.1015-6596G>T
ENST00000272902.9:c.1015-6596G>T ENSP00000272902.5:n.1015-6596G>T
ENST00000383843.9:c.940-6596G>T ENSP00000373355.5:n.940-6596G>T
ENST00000405420.2:c.955-6596G>T ENSP00000384977.2:n.955-6596G>T
ENST00000448413.5:c.1014+7480G>T ENSP00000404384.1:n.1014+7480G>T
ENST00000458465.6:c.619-6596G>T ENSP00000410060.2:n.619-6596G>T
NM_001164674.1:c.940-6596G>T NP_001158146.1:n.940-6596G>T
NM_001164675.1:c.955-6596G>T NP_001158147.1:n.955-6596G>T
NM_182760.3:c.1015-6596G>T NP_877437.2:n.1015-6596G>T
XM_011533623.1:c.1014+7480G>T XP_011531925.1:n.1014+7480G>T
XM_011533624.1:c.1014+7480G>T XP_011531926.1:n.1014+7480G>T
XM_011533625.1:c.1014+7480G>T XP_011531927.1:n.1014+7480G>T
XM_011533626.1:c.1014+7480G>T XP_011531928.1:n.1014+7480G>T
XM_011533624.3:c.1014+7480G>T XP_011531926.1:n.1014+7480G>T
XM_011533625.3:c.1014+7480G>T XP_011531927.1:n.1014+7480G>T
XM_011533626.3:c.1014+7480G>T XP_011531928.1:n.1014+7480G>T
XM_017006252.2:c.954+42015G>T XP_016861741.1:n.954+42015G>T
XM_017006253.1:c.939+7480G>T XP_016861742.1:n.939+7480G>T
XM_017006254.2:c.1014+7480G>T XP_016861743.1:n.1014+7480G>T
XM_017006255.2:c.1014+7480G>T XP_016861744.1:n.1014+7480G>T
NM_182760.4:c.1015-6596G>T MANE Select NP_877437.2:n.1015-6596G>T
NM_001164674.2:c.940-6596G>T NP_001158146.1:n.940-6596G>T
NM_001164675.2:c.955-6596G>T NP_001158147.1:n.955-6596G>T