Canonical Allele Identifier: CA452820184

Gene: SERAC1

Linked Data

• dbSNP Id: rs1388625290
• gnomAD v2: 6-158535948-A-G
• gnomAD v4: 6-158114916-A-G
• MyVariant Identifiers: chr6:g.158535948A>G (hg19) ; chr6:g.158114916A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114916A>G , CM000668.2:g.158114916A>G	GRCh38
NC_000006.11:g.158535948A>G , CM000668.1:g.158535948A>G	GRCh37
NC_000006.10:g.158455936A>G	NCBI36
NG_032889.1:g.58365T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435180.6:c.769T>C	ENSP00000391168.2:n.769T>C
ENST00000607071.6:c.*1277T>C	ENSP00000475855.1:n.*1277T>C
ENST00000642244.1:c.1467T>C	ENSP00000493554.1:p.Thr489=
ENST00000642903.1:c.1557T>C	ENSP00000493559.1:p.Thr519=
ENST00000644972.1:c.1557T>C	ENSP00000496451.1:p.Thr519=
ENST00000645077.1:c.*1178T>C	ENSP00000496113.1:n.*1178T>C
ENST00000645172.1:c.*1259T>C	ENSP00000495367.1:n.*1259T>C
ENST00000646190.1:n.2888T>C
ENST00000646208.1:c.1293T>C	ENSP00000493723.1:p.Thr431=
ENST00000646410.1:c.1428T>C	ENSP00000494205.1:p.Thr476=
ENST00000646562.1:c.*1391T>C	ENSP00000496087.1:n.*1391T>C
ENST00000647468.2:c.1557T>C MANE Select	ENSP00000496731.1:p.Thr519=
ENST00000648111.1:c.*1245T>C	ENSP00000497275.1:n.*1245T>C
ENST00000367101.5:c.*5T>C	ENSP00000356068.1:n.*5T>C
ENST00000367104.7:c.1557T>C	ENSP00000356071.3:p.Thr519=
ENST00000435180.5:c.282T>C	ENSP00000391168.1:p.Thr94=
ENST00000606965.5:c.*118T>C	ENSP00000475808.1:n.*118T>C
ENST00000607071.5:c.*1491T>C	ENSP00000475855.1:n.*1491T>C
ENST00000607742.5:c.*2835T>C	ENSP00000475523.1:n.*2835T>C
NM_032861.3:c.1557T>C	NP_116250.3:p.Thr519=
NR_073096.1:n.1490T>C
XM_006715586.1:c.1347T>C	XP_006715649.1:p.Thr449=
XM_011536196.1:c.1536T>C	XP_011534498.1:p.Thr512=
XM_011536197.1:c.1443T>C	XP_011534499.1:p.Thr481=
XM_011536198.1:c.1347T>C	XP_011534500.1:p.Thr449=
XM_006715586.3:c.1347T>C	XP_006715649.1:p.Thr449=
XM_011536196.3:c.1536T>C	XP_011534498.1:p.Thr512=
XM_011536198.3:c.1347T>C	XP_011534500.1:p.Thr449=
XM_024446573.1:c.1557T>C	XP_024302341.1:p.Thr519=
XR_001743697.2:n.1588T>C
XR_942606.2:n.1639T>C
NM_032861.4:c.1557T>C MANE Select	NP_116250.3:p.Thr519=
NR_073096.2:n.1472T>C