Canonical Allele Identifier: CA452820085

Gene: SERAC1

Linked Data

• MyVariant Identifiers: chr6:g.158535858A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114826A>G , CM000668.2:g.158114826A>G	GRCh38
NC_000006.11:g.158535858A>G , CM000668.1:g.158535858A>G	GRCh37
NC_000006.10:g.158455846A>G	NCBI36
NG_032889.1:g.58455T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435180.6:c.859T>C	ENSP00000391168.2:n.859T>C
ENST00000607071.6:c.*1367T>C	ENSP00000475855.1:n.*1367T>C
ENST00000642244.1:c.1557T>C	ENSP00000493554.1:p.Leu519=
ENST00000642903.1:c.1647T>C	ENSP00000493559.1:p.Leu549=
ENST00000644972.1:c.1647T>C	ENSP00000496451.1:p.Leu549=
ENST00000645077.1:c.*1268T>C	ENSP00000496113.1:n.*1268T>C
ENST00000645172.1:c.*1349T>C	ENSP00000495367.1:n.*1349T>C
ENST00000646190.1:n.2978T>C
ENST00000646208.1:c.1383T>C	ENSP00000493723.1:p.Leu461=
ENST00000646410.1:c.1518T>C	ENSP00000494205.1:p.Leu506=
ENST00000646562.1:c.*1481T>C	ENSP00000496087.1:n.*1481T>C
ENST00000647468.2:c.1647T>C MANE Select	ENSP00000496731.1:p.Leu549=
ENST00000648111.1:c.*1335T>C	ENSP00000497275.1:n.*1335T>C
ENST00000367101.5:c.*95T>C	ENSP00000356068.1:n.*95T>C
ENST00000367104.7:c.1647T>C	ENSP00000356071.3:p.Leu549=
ENST00000435180.5:c.372T>C	ENSP00000391168.1:p.Leu124=
ENST00000606965.5:c.*208T>C	ENSP00000475808.1:n.*208T>C
ENST00000607071.5:c.*1581T>C	ENSP00000475855.1:n.*1581T>C
ENST00000607742.5:c.*2925T>C	ENSP00000475523.1:n.*2925T>C
NM_032861.3:c.1647T>C	NP_116250.3:p.Leu549=
NR_073096.1:n.1580T>C
XM_006715586.1:c.1437T>C	XP_006715649.1:p.Leu479=
XM_011536196.1:c.1626T>C	XP_011534498.1:p.Leu542=
XM_011536197.1:c.1533T>C	XP_011534499.1:p.Leu511=
XM_011536198.1:c.1437T>C	XP_011534500.1:p.Leu479=
XM_006715586.3:c.1437T>C	XP_006715649.1:p.Leu479=
XM_011536196.3:c.1626T>C	XP_011534498.1:p.Leu542=
XM_011536198.3:c.1437T>C	XP_011534500.1:p.Leu479=
XM_024446573.1:c.1647T>C	XP_024302341.1:p.Leu549=
XR_001743697.2:n.1678T>C
XR_942606.2:n.1729T>C
NM_032861.4:c.1647T>C MANE Select	NP_116250.3:p.Leu549=
NR_073096.2:n.1562T>C