Canonical Allele Identifier: CA324637

Gene: SERAC1

Linked Data

• ClinVar Variation Id: 215150
• ClinVar RCV Id: RCV000200075 ; RCV001314802 ; RCV002517260
• dbSNP Id: rs147085187
• ExAC: 6:158567910 A / G
• gnomAD v2: 6-158567910-A-G
• gnomAD v3: 6-158146878-A-G
• gnomAD v4: 6-158146878-A-G
• MyVariant Identifiers: chr6:g.158567910A>G (hg19) ; chr6:g.158146878A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158146878A>G , CM000668.2:g.158146878A>G	GRCh38
NC_000006.11:g.158567910A>G , CM000668.1:g.158567910A>G	GRCh37
NC_000006.10:g.158487898A>G	NCBI36
NG_032889.1:g.26403T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*225T>C	ENSP00000475855.1:n.*225T>C
ENST00000642244.1:c.301T>C	ENSP00000493554.1:p.Cys101Arg
ENST00000642903.1:c.391T>C	ENSP00000493559.1:p.Cys131Arg
ENST00000643093.1:n.441T>C
ENST00000644972.1:c.391T>C	ENSP00000496451.1:p.Cys131Arg
ENST00000645077.1:c.*225T>C	ENSP00000496113.1:n.*225T>C
ENST00000645172.1:c.*189+1987T>C	ENSP00000495367.1:n.*189+1987T>C
ENST00000646190.1:n.1622T>C
ENST00000646208.1:c.127T>C	ENSP00000493723.1:p.Cys43Arg
ENST00000646410.1:c.262T>C	ENSP00000494205.1:p.Cys88Arg
ENST00000646562.1:c.*225T>C	ENSP00000496087.1:n.*225T>C
ENST00000647468.2:c.391T>C MANE Select	ENSP00000496731.1:p.Cys131Arg
ENST00000648111.1:c.*35T>C	ENSP00000497275.1:n.*35T>C
ENST00000367101.5:c.391T>C	ENSP00000356068.1:p.Cys131Arg
ENST00000367104.7:c.391T>C	ENSP00000356071.3:p.Cys131Arg
ENST00000606965.5:c.391T>C	ENSP00000475808.1:p.Cys131Arg
ENST00000607000.1:c.391T>C	ENSP00000475788.1:p.Cys131Arg
ENST00000607071.5:c.*225T>C	ENSP00000475855.1:n.*225T>C
ENST00000607742.5:c.*225T>C	ENSP00000475523.1:n.*225T>C
NM_032861.3:c.391T>C	NP_116250.3:p.Cys131Arg
NR_073096.1:n.533T>C
XM_006715586.1:c.181T>C	XP_006715649.1:p.Cys61Arg
XM_011536196.1:c.370T>C	XP_011534498.1:p.Cys124Arg
XM_011536197.1:c.391T>C	XP_011534499.1:p.Cys131Arg
XM_011536198.1:c.181T>C	XP_011534500.1:p.Cys61Arg
XR_942606.1:n.392T>C
XM_006715586.3:c.181T>C	XP_006715649.1:p.Cys61Arg
XM_011536196.3:c.370T>C	XP_011534498.1:p.Cys124Arg
XM_011536198.3:c.181T>C	XP_011534500.1:p.Cys61Arg
XM_024446573.1:c.391T>C	XP_024302341.1:p.Cys131Arg
XR_001743697.2:n.472T>C
XR_942606.2:n.523T>C
NM_032861.4:c.391T>C MANE Select	NP_116250.3:p.Cys131Arg
NR_073096.2:n.515T>C