Canonical Allele Identifier: CA351631168
Community Standard Title: NM_182760.4(SUMF1):c.935T>C (p.Val312Ala)
Gene: SUMF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.4410884A>G , CM000665.2:g.4410884A>G GRCh38
NC_000003.11:g.4452568A>G , CM000665.1:g.4452568A>G GRCh37
NC_000003.10:g.4427568A>G NCBI36
NG_016225.1:g.61399T>C
NG_016225.2:g.61399T>C

Transcript Alleles

HGVS Amino-acid Change
NM_182760.4:c.935T>C MANE Select NP_877437.2:p.Val312Ala
ENST00000272902.10:c.935T>C MANE Select ENSP00000272902.5:p.Val312Ala
NM_001164674.1:c.860T>C NP_001158146.1:p.Val287Ala
NM_001164674.2:c.860T>C NP_001158146.1:p.Val287Ala
NM_001164675.1:c.935T>C NP_001158147.1:p.Val312Ala
NM_001164675.2:c.935T>C NP_001158147.1:p.Val312Ala
NM_182760.3:c.935T>C NP_877437.2:p.Val312Ala
ENST00000272902.9:c.935T>C ENSP00000272902.5:p.Val312Ala
ENST00000383843.9:c.860T>C ENSP00000373355.5:p.Val287Ala
ENST00000405420.2:c.935T>C ENSP00000384977.2:p.Val312Ala
ENST00000448413.5:c.935T>C ENSP00000404384.1:p.Val312Ala
ENST00000458465.6:c.539T>C ENSP00000410060.2:p.Val180Ala
XM_011533623.1:c.935T>C XP_011531925.1:p.Val312Ala
XM_011533624.1:c.935T>C XP_011531926.1:p.Val312Ala
XM_011533624.3:c.935T>C XP_011531926.1:p.Val312Ala
XM_011533625.1:c.935T>C XP_011531927.1:p.Val312Ala
XM_011533625.3:c.935T>C XP_011531927.1:p.Val312Ala
XM_011533626.1:c.935T>C XP_011531928.1:p.Val312Ala
XM_011533626.3:c.935T>C XP_011531928.1:p.Val312Ala
XM_017006252.2:c.935T>C XP_016861741.1:p.Val312Ala
XM_017006253.1:c.860T>C XP_016861742.1:p.Val287Ala
XM_017006254.2:c.935T>C XP_016861743.1:p.Val312Ala
XM_017006255.2:c.935T>C XP_016861744.1:p.Val312Ala