Canonical Allele Identifier: CA452822164

Gene: SERAC1

Linked Data

• ClinVar Variation Id: 2090762
• ClinVar RCV Id: RCV003013271
• MyVariant Identifiers: chr6:g.158567889G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158146857G>T , CM000668.2:g.158146857G>T	GRCh38
NC_000006.11:g.158567889G>T , CM000668.1:g.158567889G>T	GRCh37
NC_000006.10:g.158487877G>T	NCBI36
NG_032889.1:g.26424C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*246C>A	ENSP00000475855.1:n.*246C>A
ENST00000642244.1:c.322C>A	ENSP00000493554.1:p.Arg108=
ENST00000642903.1:c.412C>A	ENSP00000493559.1:p.Arg138=
ENST00000644972.1:c.412C>A	ENSP00000496451.1:p.Arg138=
ENST00000645077.1:c.*246C>A	ENSP00000496113.1:n.*246C>A
ENST00000645172.1:c.*189+2008C>A	ENSP00000495367.1:n.*189+2008C>A
ENST00000646190.1:n.1643C>A
ENST00000646208.1:c.148C>A	ENSP00000493723.1:p.Arg50=
ENST00000646410.1:c.283C>A	ENSP00000494205.1:p.Arg95=
ENST00000646562.1:c.*246C>A	ENSP00000496087.1:n.*246C>A
ENST00000647468.2:c.412C>A MANE Select	ENSP00000496731.1:p.Arg138=
ENST00000648111.1:c.*56C>A	ENSP00000497275.1:n.*56C>A
ENST00000367101.5:c.412C>A	ENSP00000356068.1:p.Arg138=
ENST00000367104.7:c.412C>A	ENSP00000356071.3:p.Arg138=
ENST00000606965.5:c.412C>A	ENSP00000475808.1:p.Arg138=
ENST00000607000.1:c.412C>A	ENSP00000475788.1:p.Arg138=
ENST00000607071.5:c.*246C>A	ENSP00000475855.1:n.*246C>A
ENST00000607742.5:c.*246C>A	ENSP00000475523.1:n.*246C>A
NM_032861.3:c.412C>A	NP_116250.3:p.Arg138=
NR_073096.1:n.554C>A
XM_006715586.1:c.202C>A	XP_006715649.1:p.Arg68=
XM_011536196.1:c.391C>A	XP_011534498.1:p.Arg131=
XM_011536197.1:c.412C>A	XP_011534499.1:p.Arg138=
XM_011536198.1:c.202C>A	XP_011534500.1:p.Arg68=
XR_942606.1:n.413C>A
XM_006715586.3:c.202C>A	XP_006715649.1:p.Arg68=
XM_011536196.3:c.391C>A	XP_011534498.1:p.Arg131=
XM_011536198.3:c.202C>A	XP_011534500.1:p.Arg68=
XM_024446573.1:c.412C>A	XP_024302341.1:p.Arg138=
XR_001743697.2:n.493C>A
XR_942606.2:n.544C>A
NM_032861.4:c.412C>A MANE Select	NP_116250.3:p.Arg138=
NR_073096.2:n.536C>A