Canonical Allele Identifier: CA4071379

Gene: SERAC1

Linked Data

• dbSNP Id: rs191208250
• ExAC: 6:158567937 T / G
• gnomAD v2: 6-158567937-T-G
• MyVariant Identifiers: chr6:g.158567937T>G (hg19) ; chr6:g.158146905T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158146905T>G , CM000668.2:g.158146905T>G	GRCh38
NC_000006.11:g.158567937T>G , CM000668.1:g.158567937T>G	GRCh37
NC_000006.10:g.158487925T>G	NCBI36
NG_032889.1:g.26376A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*198A>C	ENSP00000475855.1:n.*198A>C
ENST00000642244.1:c.274A>C	ENSP00000493554.1:p.Ser92Arg
ENST00000642903.1:c.364A>C	ENSP00000493559.1:p.Ser122Arg
ENST00000643093.1:n.414A>C
ENST00000644972.1:c.364A>C	ENSP00000496451.1:p.Ser122Arg
ENST00000645077.1:c.*198A>C	ENSP00000496113.1:n.*198A>C
ENST00000645172.1:c.*189+1960A>C	ENSP00000495367.1:n.*189+1960A>C
ENST00000646190.1:n.1595A>C
ENST00000646208.1:c.100A>C	ENSP00000493723.1:p.Ser34Arg
ENST00000646410.1:c.235A>C	ENSP00000494205.1:p.Ser79Arg
ENST00000646562.1:c.*198A>C	ENSP00000496087.1:n.*198A>C
ENST00000647468.2:c.364A>C MANE Select	ENSP00000496731.1:p.Ser122Arg
ENST00000648111.1:c.*8A>C	ENSP00000497275.1:n.*8A>C
ENST00000367101.5:c.364A>C	ENSP00000356068.1:p.Ser122Arg
ENST00000367104.7:c.364A>C	ENSP00000356071.3:p.Ser122Arg
ENST00000606965.5:c.364A>C	ENSP00000475808.1:p.Ser122Arg
ENST00000607000.1:c.364A>C	ENSP00000475788.1:p.Ser122Arg
ENST00000607071.5:c.*198A>C	ENSP00000475855.1:n.*198A>C
ENST00000607742.5:c.*198A>C	ENSP00000475523.1:n.*198A>C
NM_032861.3:c.364A>C	NP_116250.3:p.Ser122Arg
NR_073096.1:n.506A>C
XM_006715586.1:c.154A>C	XP_006715649.1:p.Ser52Arg
XM_011536196.1:c.343A>C	XP_011534498.1:p.Ser115Arg
XM_011536197.1:c.364A>C	XP_011534499.1:p.Ser122Arg
XM_011536198.1:c.154A>C	XP_011534500.1:p.Ser52Arg
XR_942606.1:n.365A>C
XM_006715586.3:c.154A>C	XP_006715649.1:p.Ser52Arg
XM_011536196.3:c.343A>C	XP_011534498.1:p.Ser115Arg
XM_011536198.3:c.154A>C	XP_011534500.1:p.Ser52Arg
XM_024446573.1:c.364A>C	XP_024302341.1:p.Ser122Arg
XR_001743697.2:n.445A>C
XR_942606.2:n.496A>C
NM_032861.4:c.364A>C MANE Select	NP_116250.3:p.Ser122Arg
NR_073096.2:n.488A>C