Canonical Allele Identifier: CA4071023

Gene: SERAC1

Linked Data

• ClinVar Variation Id: 858150
• ClinVar RCV Id: RCV001063965 ; RCV001664654
• dbSNP Id: rs143065058
• ExAC: 6:158535967 G / A
• gnomAD v2: 6-158535967-G-A
• gnomAD v3: 6-158114935-G-A
• gnomAD v4: 6-158114935-G-A
• MyVariant Identifiers: chr6:g.158535967G>A (hg19) ; chr6:g.158114935G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114935G>A , CM000668.2:g.158114935G>A	GRCh38
NC_000006.11:g.158535967G>A , CM000668.1:g.158535967G>A	GRCh37
NC_000006.10:g.158455955G>A	NCBI36
NG_032889.1:g.58346C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435180.6:c.750C>T	ENSP00000391168.2:n.750C>T
ENST00000607071.6:c.*1258C>T	ENSP00000475855.1:n.*1258C>T
ENST00000642244.1:c.1448C>T	ENSP00000493554.1:p.Thr483Met
ENST00000642903.1:c.1538C>T	ENSP00000493559.1:p.Thr513Met
ENST00000644972.1:c.1538C>T	ENSP00000496451.1:p.Thr513Met
ENST00000645077.1:c.*1159C>T	ENSP00000496113.1:n.*1159C>T
ENST00000645172.1:c.*1240C>T	ENSP00000495367.1:n.*1240C>T
ENST00000646190.1:n.2869C>T
ENST00000646208.1:c.1274C>T	ENSP00000493723.1:p.Thr425Met
ENST00000646410.1:c.1409C>T	ENSP00000494205.1:p.Thr470Met
ENST00000646562.1:c.*1372C>T	ENSP00000496087.1:n.*1372C>T
ENST00000647468.2:c.1538C>T MANE Select	ENSP00000496731.1:p.Thr513Met
ENST00000648111.1:c.*1226C>T	ENSP00000497275.1:n.*1226C>T
ENST00000367101.5:c.1582C>T	ENSP00000356068.1:p.Arg528Ter
ENST00000367104.7:c.1538C>T	ENSP00000356071.3:p.Thr513Met
ENST00000435180.5:c.263C>T	ENSP00000391168.1:p.Thr88Met
ENST00000606965.5:c.*99C>T	ENSP00000475808.1:n.*99C>T
ENST00000607071.5:c.*1472C>T	ENSP00000475855.1:n.*1472C>T
ENST00000607742.5:c.*2816C>T	ENSP00000475523.1:n.*2816C>T
NM_032861.3:c.1538C>T	NP_116250.3:p.Thr513Met
NR_073096.1:n.1471C>T
XM_006715586.1:c.1328C>T	XP_006715649.1:p.Thr443Met
XM_011536196.1:c.1517C>T	XP_011534498.1:p.Thr506Met
XM_011536197.1:c.1424C>T	XP_011534499.1:p.Thr475Met
XM_011536198.1:c.1328C>T	XP_011534500.1:p.Thr443Met
XM_006715586.3:c.1328C>T	XP_006715649.1:p.Thr443Met
XM_011536196.3:c.1517C>T	XP_011534498.1:p.Thr506Met
XM_011536198.3:c.1328C>T	XP_011534500.1:p.Thr443Met
XM_024446573.1:c.1538C>T	XP_024302341.1:p.Thr513Met
XR_001743697.2:n.1569C>T
XR_942606.2:n.1620C>T
NM_032861.4:c.1538C>T MANE Select	NP_116250.3:p.Thr513Met
NR_073096.2:n.1453C>T