Canonical Allele Identifier: CA366264620

Gene: SERAC1

Linked Data

• dbSNP Id: rs1583595071
• gnomAD v4: 6-158146823-A-C
• MyVariant Identifiers: chr6:g.158567855A>C (hg19) ; chr6:g.158146823A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158146823A>C , CM000668.2:g.158146823A>C	GRCh38
NC_000006.11:g.158567855A>C , CM000668.1:g.158567855A>C	GRCh37
NC_000006.10:g.158487843A>C	NCBI36
NG_032889.1:g.26458T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*280T>G	ENSP00000475855.1:n.*280T>G
ENST00000642244.1:c.356T>G	ENSP00000493554.1:p.Leu119Arg
ENST00000642903.1:c.446T>G	ENSP00000493559.1:p.Leu149Arg
ENST00000644972.1:c.446T>G	ENSP00000496451.1:p.Leu149Arg
ENST00000645077.1:c.*280T>G	ENSP00000496113.1:n.*280T>G
ENST00000645172.1:c.*189+2042T>G	ENSP00000495367.1:n.*189+2042T>G
ENST00000646190.1:n.1677T>G
ENST00000646208.1:c.182T>G	ENSP00000493723.1:p.Leu61Arg
ENST00000646410.1:c.317T>G	ENSP00000494205.1:p.Leu106Arg
ENST00000646562.1:c.*280T>G	ENSP00000496087.1:n.*280T>G
ENST00000647468.2:c.446T>G MANE Select	ENSP00000496731.1:p.Leu149Arg
ENST00000648111.1:c.*90T>G	ENSP00000497275.1:n.*90T>G
ENST00000367101.5:c.446T>G	ENSP00000356068.1:p.Leu149Arg
ENST00000367104.7:c.446T>G	ENSP00000356071.3:p.Leu149Arg
ENST00000606965.5:c.446T>G	ENSP00000475808.1:p.Leu149Arg
ENST00000607000.1:c.446T>G	ENSP00000475788.1:p.Leu149Arg
ENST00000607071.5:c.*280T>G	ENSP00000475855.1:n.*280T>G
ENST00000607742.5:c.*280T>G	ENSP00000475523.1:n.*280T>G
NM_032861.3:c.446T>G	NP_116250.3:p.Leu149Arg
NR_073096.1:n.588T>G
XM_006715586.1:c.236T>G	XP_006715649.1:p.Leu79Arg
XM_011536196.1:c.425T>G	XP_011534498.1:p.Leu142Arg
XM_011536197.1:c.446T>G	XP_011534499.1:p.Leu149Arg
XM_011536198.1:c.236T>G	XP_011534500.1:p.Leu79Arg
XR_942606.1:n.447T>G
XM_006715586.3:c.236T>G	XP_006715649.1:p.Leu79Arg
XM_011536196.3:c.425T>G	XP_011534498.1:p.Leu142Arg
XM_011536198.3:c.236T>G	XP_011534500.1:p.Leu79Arg
XM_024446573.1:c.446T>G	XP_024302341.1:p.Leu149Arg
XR_001743697.2:n.527T>G
XR_942606.2:n.578T>G
NM_032861.4:c.446T>G MANE Select	NP_116250.3:p.Leu149Arg
NR_073096.2:n.570T>G