Canonical Allele Identifier: CA366264746

Gene: SERAC1

Linked Data

• dbSNP Id: rs1207351763
• gnomAD v2: 6-158567895-G-C
• MyVariant Identifiers: chr6:g.158567895G>C (hg19) ; chr6:g.158146863G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158146863G>C , CM000668.2:g.158146863G>C	GRCh38
NC_000006.11:g.158567895G>C , CM000668.1:g.158567895G>C	GRCh37
NC_000006.10:g.158487883G>C	NCBI36
NG_032889.1:g.26418C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*240C>G	ENSP00000475855.1:n.*240C>G
ENST00000642244.1:c.316C>G	ENSP00000493554.1:p.Leu106Val
ENST00000642903.1:c.406C>G	ENSP00000493559.1:p.Leu136Val
ENST00000644972.1:c.406C>G	ENSP00000496451.1:p.Leu136Val
ENST00000645077.1:c.*240C>G	ENSP00000496113.1:n.*240C>G
ENST00000645172.1:c.*189+2002C>G	ENSP00000495367.1:n.*189+2002C>G
ENST00000646190.1:n.1637C>G
ENST00000646208.1:c.142C>G	ENSP00000493723.1:p.Leu48Val
ENST00000646410.1:c.277C>G	ENSP00000494205.1:p.Leu93Val
ENST00000646562.1:c.*240C>G	ENSP00000496087.1:n.*240C>G
ENST00000647468.2:c.406C>G MANE Select	ENSP00000496731.1:p.Leu136Val
ENST00000648111.1:c.*50C>G	ENSP00000497275.1:n.*50C>G
ENST00000367101.5:c.406C>G	ENSP00000356068.1:p.Leu136Val
ENST00000367104.7:c.406C>G	ENSP00000356071.3:p.Leu136Val
ENST00000606965.5:c.406C>G	ENSP00000475808.1:p.Leu136Val
ENST00000607000.1:c.406C>G	ENSP00000475788.1:p.Leu136Val
ENST00000607071.5:c.*240C>G	ENSP00000475855.1:n.*240C>G
ENST00000607742.5:c.*240C>G	ENSP00000475523.1:n.*240C>G
NM_032861.3:c.406C>G	NP_116250.3:p.Leu136Val
NR_073096.1:n.548C>G
XM_006715586.1:c.196C>G	XP_006715649.1:p.Leu66Val
XM_011536196.1:c.385C>G	XP_011534498.1:p.Leu129Val
XM_011536197.1:c.406C>G	XP_011534499.1:p.Leu136Val
XM_011536198.1:c.196C>G	XP_011534500.1:p.Leu66Val
XR_942606.1:n.407C>G
XM_006715586.3:c.196C>G	XP_006715649.1:p.Leu66Val
XM_011536196.3:c.385C>G	XP_011534498.1:p.Leu129Val
XM_011536198.3:c.196C>G	XP_011534500.1:p.Leu66Val
XM_024446573.1:c.406C>G	XP_024302341.1:p.Leu136Val
XR_001743697.2:n.487C>G
XR_942606.2:n.538C>G
NM_032861.4:c.406C>G MANE Select	NP_116250.3:p.Leu136Val
NR_073096.2:n.530C>G