Canonical Allele Identifier: CA366255297

Gene: SERAC1

Linked Data

• ClinVar Variation Id: 1367011
• ClinVar RCV Id: RCV001944952
• dbSNP Id: rs2128410682
• gnomAD v4: 6-158114968-A-C
• MyVariant Identifiers: chr6:g.158536000A>C (hg19) ; chr6:g.158114968A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114968A>C , CM000668.2:g.158114968A>C	GRCh38
NC_000006.11:g.158536000A>C , CM000668.1:g.158536000A>C	GRCh37
NC_000006.10:g.158455988A>C	NCBI36
NG_032889.1:g.58313T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435180.6:c.717T>G	ENSP00000391168.2:n.717T>G
ENST00000607071.6:c.*1225T>G	ENSP00000475855.1:n.*1225T>G
ENST00000642244.1:c.1415T>G	ENSP00000493554.1:p.Leu472Arg
ENST00000642903.1:c.1505T>G	ENSP00000493559.1:p.Leu502Arg
ENST00000644972.1:c.1505T>G	ENSP00000496451.1:p.Leu502Arg
ENST00000645077.1:c.*1126T>G	ENSP00000496113.1:n.*1126T>G
ENST00000645172.1:c.*1207T>G	ENSP00000495367.1:n.*1207T>G
ENST00000646190.1:n.2836T>G
ENST00000646208.1:c.1241T>G	ENSP00000493723.1:p.Leu414Arg
ENST00000646410.1:c.1376T>G	ENSP00000494205.1:p.Leu459Arg
ENST00000646562.1:c.*1339T>G	ENSP00000496087.1:n.*1339T>G
ENST00000647468.2:c.1505T>G MANE Select	ENSP00000496731.1:p.Leu502Arg
ENST00000648111.1:c.*1193T>G	ENSP00000497275.1:n.*1193T>G
ENST00000367101.5:c.1549T>G	ENSP00000356068.1:p.Phe517Val
ENST00000367104.7:c.1505T>G	ENSP00000356071.3:p.Leu502Arg
ENST00000435180.5:c.230T>G	ENSP00000391168.1:p.Leu77Arg
ENST00000606965.5:c.*66T>G	ENSP00000475808.1:n.*66T>G
ENST00000607071.5:c.*1439T>G	ENSP00000475855.1:n.*1439T>G
ENST00000607742.5:c.*2783T>G	ENSP00000475523.1:n.*2783T>G
NM_032861.3:c.1505T>G	NP_116250.3:p.Leu502Arg
NR_073096.1:n.1438T>G
XM_006715586.1:c.1295T>G	XP_006715649.1:p.Leu432Arg
XM_011536196.1:c.1484T>G	XP_011534498.1:p.Leu495Arg
XM_011536197.1:c.1391T>G	XP_011534499.1:p.Leu464Arg
XM_011536198.1:c.1295T>G	XP_011534500.1:p.Leu432Arg
XM_006715586.3:c.1295T>G	XP_006715649.1:p.Leu432Arg
XM_011536196.3:c.1484T>G	XP_011534498.1:p.Leu495Arg
XM_011536198.3:c.1295T>G	XP_011534500.1:p.Leu432Arg
XM_024446573.1:c.1505T>G	XP_024302341.1:p.Leu502Arg
XR_001743697.2:n.1536T>G
XR_942606.2:n.1587T>G
NM_032861.4:c.1505T>G MANE Select	NP_116250.3:p.Leu502Arg
NR_073096.2:n.1420T>G