Canonical Allele Identifier: CA366264822

Gene: SERAC1

Linked Data

• MyVariant Identifiers: chr6:g.158567912T>G (hg19) ; chr6:g.158146880T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158146880T>G , CM000668.2:g.158146880T>G	GRCh38
NC_000006.11:g.158567912T>G , CM000668.1:g.158567912T>G	GRCh37
NC_000006.10:g.158487900T>G	NCBI36
NG_032889.1:g.26401A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*223A>C	ENSP00000475855.1:n.*223A>C
ENST00000642244.1:c.299A>C	ENSP00000493554.1:p.Glu100Ala
ENST00000642903.1:c.389A>C	ENSP00000493559.1:p.Glu130Ala
ENST00000643093.1:n.439A>C
ENST00000644972.1:c.389A>C	ENSP00000496451.1:p.Glu130Ala
ENST00000645077.1:c.*223A>C	ENSP00000496113.1:n.*223A>C
ENST00000645172.1:c.*189+1985A>C	ENSP00000495367.1:n.*189+1985A>C
ENST00000646190.1:n.1620A>C
ENST00000646208.1:c.125A>C	ENSP00000493723.1:p.Glu42Ala
ENST00000646410.1:c.260A>C	ENSP00000494205.1:p.Glu87Ala
ENST00000646562.1:c.*223A>C	ENSP00000496087.1:n.*223A>C
ENST00000647468.2:c.389A>C MANE Select	ENSP00000496731.1:p.Glu130Ala
ENST00000648111.1:c.*33A>C	ENSP00000497275.1:n.*33A>C
ENST00000367101.5:c.389A>C	ENSP00000356068.1:p.Glu130Ala
ENST00000367104.7:c.389A>C	ENSP00000356071.3:p.Glu130Ala
ENST00000606965.5:c.389A>C	ENSP00000475808.1:p.Glu130Ala
ENST00000607000.1:c.389A>C	ENSP00000475788.1:p.Glu130Ala
ENST00000607071.5:c.*223A>C	ENSP00000475855.1:n.*223A>C
ENST00000607742.5:c.*223A>C	ENSP00000475523.1:n.*223A>C
NM_032861.3:c.389A>C	NP_116250.3:p.Glu130Ala
NR_073096.1:n.531A>C
XM_006715586.1:c.179A>C	XP_006715649.1:p.Glu60Ala
XM_011536196.1:c.368A>C	XP_011534498.1:p.Glu123Ala
XM_011536197.1:c.389A>C	XP_011534499.1:p.Glu130Ala
XM_011536198.1:c.179A>C	XP_011534500.1:p.Glu60Ala
XR_942606.1:n.390A>C
XM_006715586.3:c.179A>C	XP_006715649.1:p.Glu60Ala
XM_011536196.3:c.368A>C	XP_011534498.1:p.Glu123Ala
XM_011536198.3:c.179A>C	XP_011534500.1:p.Glu60Ala
XM_024446573.1:c.389A>C	XP_024302341.1:p.Glu130Ala
XR_001743697.2:n.470A>C
XR_942606.2:n.521A>C
NM_032861.4:c.389A>C MANE Select	NP_116250.3:p.Glu130Ala
NR_073096.2:n.513A>C