Canonical Allele Identifier: CA4071362

Gene: SERAC1

Linked Data

• dbSNP Id: rs374076900
• ExAC: 6:158567852 T / A
• gnomAD v2: 6-158567852-T-A
• gnomAD v3: 6-158146820-T-A
• gnomAD v4: 6-158146820-T-A
• MyVariant Identifiers: chr6:g.158567852T>A (hg19) ; chr6:g.158146820T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158146820T>A , CM000668.2:g.158146820T>A	GRCh38
NC_000006.11:g.158567852T>A , CM000668.1:g.158567852T>A	GRCh37
NC_000006.10:g.158487840T>A	NCBI36
NG_032889.1:g.26461A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*283A>T	ENSP00000475855.1:n.*283A>T
ENST00000642244.1:c.359A>T	ENSP00000493554.1:p.Glu120Val
ENST00000642903.1:c.449A>T	ENSP00000493559.1:p.Glu150Val
ENST00000644972.1:c.449A>T	ENSP00000496451.1:p.Glu150Val
ENST00000645077.1:c.*283A>T	ENSP00000496113.1:n.*283A>T
ENST00000645172.1:c.*189+2045A>T	ENSP00000495367.1:n.*189+2045A>T
ENST00000646190.1:n.1680A>T
ENST00000646208.1:c.185A>T	ENSP00000493723.1:p.Glu62Val
ENST00000646410.1:c.320A>T	ENSP00000494205.1:p.Glu107Val
ENST00000646562.1:c.*283A>T	ENSP00000496087.1:n.*283A>T
ENST00000647468.2:c.449A>T MANE Select	ENSP00000496731.1:p.Glu150Val
ENST00000648111.1:c.*93A>T	ENSP00000497275.1:n.*93A>T
ENST00000367101.5:c.449A>T	ENSP00000356068.1:p.Glu150Val
ENST00000367104.7:c.449A>T	ENSP00000356071.3:p.Glu150Val
ENST00000606965.5:c.449A>T	ENSP00000475808.1:p.Glu150Val
ENST00000607000.1:c.449A>T	ENSP00000475788.1:p.Glu150Val
ENST00000607071.5:c.*283A>T	ENSP00000475855.1:n.*283A>T
ENST00000607742.5:c.*283A>T	ENSP00000475523.1:n.*283A>T
NM_032861.3:c.449A>T	NP_116250.3:p.Glu150Val
NR_073096.1:n.591A>T
XM_006715586.1:c.239A>T	XP_006715649.1:p.Glu80Val
XM_011536196.1:c.428A>T	XP_011534498.1:p.Glu143Val
XM_011536197.1:c.449A>T	XP_011534499.1:p.Glu150Val
XM_011536198.1:c.239A>T	XP_011534500.1:p.Glu80Val
XR_942606.1:n.450A>T
XM_006715586.3:c.239A>T	XP_006715649.1:p.Glu80Val
XM_011536196.3:c.428A>T	XP_011534498.1:p.Glu143Val
XM_011536198.3:c.239A>T	XP_011534500.1:p.Glu80Val
XM_024446573.1:c.449A>T	XP_024302341.1:p.Glu150Val
XR_001743697.2:n.530A>T
XR_942606.2:n.581A>T
NM_032861.4:c.449A>T MANE Select	NP_116250.3:p.Glu150Val
NR_073096.2:n.573A>T