Canonical Allele Identifier: CA4071031

Gene: SERAC1

Linked Data

• dbSNP Id: rs756088574
• ExAC: 6:158536002 A / C
• gnomAD v2: 6-158536002-A-C
• MyVariant Identifiers: chr6:g.158536002A>C (hg19) ; chr6:g.158114970A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114970A>C , CM000668.2:g.158114970A>C	GRCh38
NC_000006.11:g.158536002A>C , CM000668.1:g.158536002A>C	GRCh37
NC_000006.10:g.158455990A>C	NCBI36
NG_032889.1:g.58311T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435180.6:c.715T>G	ENSP00000391168.2:n.715T>G
ENST00000607071.6:c.*1223T>G	ENSP00000475855.1:n.*1223T>G
ENST00000642244.1:c.1413T>G	ENSP00000493554.1:p.Gly471=
ENST00000642903.1:c.1503T>G	ENSP00000493559.1:p.Gly501=
ENST00000644972.1:c.1503T>G	ENSP00000496451.1:p.Gly501=
ENST00000645077.1:c.*1124T>G	ENSP00000496113.1:n.*1124T>G
ENST00000645172.1:c.*1205T>G	ENSP00000495367.1:n.*1205T>G
ENST00000646190.1:n.2834T>G
ENST00000646208.1:c.1239T>G	ENSP00000493723.1:p.Gly413=
ENST00000646410.1:c.1374T>G	ENSP00000494205.1:p.Gly458=
ENST00000646562.1:c.*1337T>G	ENSP00000496087.1:n.*1337T>G
ENST00000647468.2:c.1503T>G MANE Select	ENSP00000496731.1:p.Gly501=
ENST00000648111.1:c.*1191T>G	ENSP00000497275.1:n.*1191T>G
ENST00000367101.5:c.1547T>G	ENSP00000356068.1:p.Val516Gly
ENST00000367104.7:c.1503T>G	ENSP00000356071.3:p.Gly501=
ENST00000435180.5:c.228T>G	ENSP00000391168.1:p.Gly76=
ENST00000606965.5:c.*64T>G	ENSP00000475808.1:n.*64T>G
ENST00000607071.5:c.*1437T>G	ENSP00000475855.1:n.*1437T>G
ENST00000607742.5:c.*2781T>G	ENSP00000475523.1:n.*2781T>G
NM_032861.3:c.1503T>G	NP_116250.3:p.Gly501=
NR_073096.1:n.1436T>G
XM_006715586.1:c.1293T>G	XP_006715649.1:p.Gly431=
XM_011536196.1:c.1482T>G	XP_011534498.1:p.Gly494=
XM_011536197.1:c.1389T>G	XP_011534499.1:p.Gly463=
XM_011536198.1:c.1293T>G	XP_011534500.1:p.Gly431=
XM_006715586.3:c.1293T>G	XP_006715649.1:p.Gly431=
XM_011536196.3:c.1482T>G	XP_011534498.1:p.Gly494=
XM_011536198.3:c.1293T>G	XP_011534500.1:p.Gly431=
XM_024446573.1:c.1503T>G	XP_024302341.1:p.Gly501=
XR_001743697.2:n.1534T>G
XR_942606.2:n.1585T>G
NM_032861.4:c.1503T>G MANE Select	NP_116250.3:p.Gly501=
NR_073096.2:n.1418T>G