Canonical Allele Identifier: CA2230590

Gene: SUMF1

Linked Data

• dbSNP Id: rs763859426
• ExAC: 3:4491008 T / A
• gnomAD v2: 3-4491008-T-A
• gnomAD v3: 3-4449324-T-A
• gnomAD v4: 3-4449324-T-A
• MyVariant Identifiers: chr3:g.4491008T>A (hg19) ; chr3:g.4449324T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4449324T>A , CM000665.2:g.4449324T>A	GRCh38
NC_000003.11:g.4491008T>A , CM000665.1:g.4491008T>A	GRCh37
NC_000003.10:g.4466008T>A	NCBI36
NG_016225.1:g.22959A>T
NG_016225.2:g.22959A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272902.10:c.461A>T MANE Select	ENSP00000272902.5:p.Asp154Val
ENST00000272902.9:c.461A>T	ENSP00000272902.5:p.Asp154Val
ENST00000383843.9:c.444+3552A>T	ENSP00000373355.5:n.444+3552A>T
ENST00000405420.2:c.461A>T	ENSP00000384977.2:p.Asp154Val
ENST00000448413.5:c.461A>T	ENSP00000404384.1:p.Asp154Val
ENST00000458465.6:c.444+3552A>T	ENSP00000410060.2:n.444+3552A>T
NM_001164674.1:c.444+3552A>T	NP_001158146.1:n.444+3552A>T
NM_001164675.1:c.461A>T	NP_001158147.1:p.Asp154Val
NM_182760.3:c.461A>T	NP_877437.2:p.Asp154Val
XM_011533623.1:c.461A>T	XP_011531925.1:p.Asp154Val
XM_011533624.1:c.461A>T	XP_011531926.1:p.Asp154Val
XM_011533625.1:c.461A>T	XP_011531927.1:p.Asp154Val
XM_011533626.1:c.461A>T	XP_011531928.1:p.Asp154Val
XM_011533624.3:c.461A>T	XP_011531926.1:p.Asp154Val
XM_011533625.3:c.461A>T	XP_011531927.1:p.Asp154Val
XM_011533626.3:c.461A>T	XP_011531928.1:p.Asp154Val
XM_017006252.2:c.461A>T	XP_016861741.1:p.Asp154Val
XM_017006253.1:c.444+3552A>T	XP_016861742.1:n.444+3552A>T
XM_017006254.2:c.461A>T	XP_016861743.1:p.Asp154Val
XM_017006255.2:c.461A>T	XP_016861744.1:p.Asp154Val
NM_182760.4:c.461A>T MANE Select	NP_877437.2:p.Asp154Val
NM_001164674.2:c.444+3552A>T	NP_001158146.1:n.444+3552A>T
NM_001164675.2:c.461A>T	NP_001158147.1:p.Asp154Val