Canonical Allele Identifier: CA366264662

Gene: SERAC1

Linked Data

• ClinVar Variation Id: 2125035
• ClinVar RCV Id: RCV003057458
• MyVariant Identifiers: chr6:g.158567872A>T (hg19) ; chr6:g.158146840A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158146840A>T , CM000668.2:g.158146840A>T	GRCh38
NC_000006.11:g.158567872A>T , CM000668.1:g.158567872A>T	GRCh37
NC_000006.10:g.158487860A>T	NCBI36
NG_032889.1:g.26441T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*263T>A	ENSP00000475855.1:n.*263T>A
ENST00000642244.1:c.339T>A	ENSP00000493554.1:p.Asp113Glu
ENST00000642903.1:c.429T>A	ENSP00000493559.1:p.Asp143Glu
ENST00000644972.1:c.429T>A	ENSP00000496451.1:p.Asp143Glu
ENST00000645077.1:c.*263T>A	ENSP00000496113.1:n.*263T>A
ENST00000645172.1:c.*189+2025T>A	ENSP00000495367.1:n.*189+2025T>A
ENST00000646190.1:n.1660T>A
ENST00000646208.1:c.165T>A	ENSP00000493723.1:p.Asp55Glu
ENST00000646410.1:c.300T>A	ENSP00000494205.1:p.Asp100Glu
ENST00000646562.1:c.*263T>A	ENSP00000496087.1:n.*263T>A
ENST00000647468.2:c.429T>A MANE Select	ENSP00000496731.1:p.Asp143Glu
ENST00000648111.1:c.*73T>A	ENSP00000497275.1:n.*73T>A
ENST00000367101.5:c.429T>A	ENSP00000356068.1:p.Asp143Glu
ENST00000367104.7:c.429T>A	ENSP00000356071.3:p.Asp143Glu
ENST00000606965.5:c.429T>A	ENSP00000475808.1:p.Asp143Glu
ENST00000607000.1:c.429T>A	ENSP00000475788.1:p.Asp143Glu
ENST00000607071.5:c.*263T>A	ENSP00000475855.1:n.*263T>A
ENST00000607742.5:c.*263T>A	ENSP00000475523.1:n.*263T>A
NM_032861.3:c.429T>A	NP_116250.3:p.Asp143Glu
NR_073096.1:n.571T>A
XM_006715586.1:c.219T>A	XP_006715649.1:p.Asp73Glu
XM_011536196.1:c.408T>A	XP_011534498.1:p.Asp136Glu
XM_011536197.1:c.429T>A	XP_011534499.1:p.Asp143Glu
XM_011536198.1:c.219T>A	XP_011534500.1:p.Asp73Glu
XR_942606.1:n.430T>A
XM_006715586.3:c.219T>A	XP_006715649.1:p.Asp73Glu
XM_011536196.3:c.408T>A	XP_011534498.1:p.Asp136Glu
XM_011536198.3:c.219T>A	XP_011534500.1:p.Asp73Glu
XM_024446573.1:c.429T>A	XP_024302341.1:p.Asp143Glu
XR_001743697.2:n.510T>A
XR_942606.2:n.561T>A
NM_032861.4:c.429T>A MANE Select	NP_116250.3:p.Asp143Glu
NR_073096.2:n.553T>A