Canonical Allele Identifier: CA4071360

Gene: SERAC1

Linked Data

• ClinVar Variation Id: 2161828
• ClinVar RCV Id: RCV003089698
• dbSNP Id: rs549677025
• ExAC: 6:158567843 C / T
• gnomAD v2: 6-158567843-C-T
• gnomAD v3: 6-158146811-C-T
• gnomAD v4: 6-158146811-C-T
• MyVariant Identifiers: chr6:g.158567843C>T (hg19) ; chr6:g.158146811C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158146811C>T , CM000668.2:g.158146811C>T	GRCh38
NC_000006.11:g.158567843C>T , CM000668.1:g.158567843C>T	GRCh37
NC_000006.10:g.158487831C>T	NCBI36
NG_032889.1:g.26470G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*292G>A	ENSP00000475855.1:n.*292G>A
ENST00000642244.1:c.368G>A	ENSP00000493554.1:p.Arg123Gln
ENST00000642903.1:c.458G>A	ENSP00000493559.1:p.Arg153Gln
ENST00000644972.1:c.458G>A	ENSP00000496451.1:p.Arg153Gln
ENST00000645077.1:c.*292G>A	ENSP00000496113.1:n.*292G>A
ENST00000645172.1:c.*189+2054G>A	ENSP00000495367.1:n.*189+2054G>A
ENST00000646190.1:n.1689G>A
ENST00000646208.1:c.194G>A	ENSP00000493723.1:p.Arg65Gln
ENST00000646410.1:c.329G>A	ENSP00000494205.1:p.Arg110Gln
ENST00000646562.1:c.*292G>A	ENSP00000496087.1:n.*292G>A
ENST00000647468.2:c.458G>A MANE Select	ENSP00000496731.1:p.Arg153Gln
ENST00000648111.1:c.*102G>A	ENSP00000497275.1:n.*102G>A
ENST00000367101.5:c.458G>A	ENSP00000356068.1:p.Arg153Gln
ENST00000367104.7:c.458G>A	ENSP00000356071.3:p.Arg153Gln
ENST00000606965.5:c.458G>A	ENSP00000475808.1:p.Arg153Gln
ENST00000607000.1:c.458G>A	ENSP00000475788.1:p.Arg153Gln
ENST00000607071.5:c.*292G>A	ENSP00000475855.1:n.*292G>A
ENST00000607742.5:c.*292G>A	ENSP00000475523.1:n.*292G>A
NM_032861.3:c.458G>A	NP_116250.3:p.Arg153Gln
NR_073096.1:n.600G>A
XM_006715586.1:c.248G>A	XP_006715649.1:p.Arg83Gln
XM_011536196.1:c.437G>A	XP_011534498.1:p.Arg146Gln
XM_011536197.1:c.458G>A	XP_011534499.1:p.Arg153Gln
XM_011536198.1:c.248G>A	XP_011534500.1:p.Arg83Gln
XR_942606.1:n.459G>A
XM_006715586.3:c.248G>A	XP_006715649.1:p.Arg83Gln
XM_011536196.3:c.437G>A	XP_011534498.1:p.Arg146Gln
XM_011536198.3:c.248G>A	XP_011534500.1:p.Arg83Gln
XM_024446573.1:c.458G>A	XP_024302341.1:p.Arg153Gln
XR_001743697.2:n.539G>A
XR_942606.2:n.590G>A
NM_032861.4:c.458G>A MANE Select	NP_116250.3:p.Arg153Gln
NR_073096.2:n.582G>A