Canonical Allele Identifier: CA4071372

Gene: SERAC1

Linked Data

• ClinVar Variation Id: 2196288
• ClinVar RCV Id: RCV003349064 ; RCV002633553
• dbSNP Id: rs148861818
• ExAC: 6:158567889 G / A
• gnomAD v2: 6-158567889-G-A
• gnomAD v3: 6-158146857-G-A
• gnomAD v4: 6-158146857-G-A
• MyVariant Identifiers: chr6:g.158567889G>A (hg19) ; chr6:g.158146857G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158146857G>A , CM000668.2:g.158146857G>A	GRCh38
NC_000006.11:g.158567889G>A , CM000668.1:g.158567889G>A	GRCh37
NC_000006.10:g.158487877G>A	NCBI36
NG_032889.1:g.26424C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*246C>T	ENSP00000475855.1:n.*246C>T
ENST00000642244.1:c.322C>T	ENSP00000493554.1:p.Arg108Trp
ENST00000642903.1:c.412C>T	ENSP00000493559.1:p.Arg138Trp
ENST00000644972.1:c.412C>T	ENSP00000496451.1:p.Arg138Trp
ENST00000645077.1:c.*246C>T	ENSP00000496113.1:n.*246C>T
ENST00000645172.1:c.*189+2008C>T	ENSP00000495367.1:n.*189+2008C>T
ENST00000646190.1:n.1643C>T
ENST00000646208.1:c.148C>T	ENSP00000493723.1:p.Arg50Trp
ENST00000646410.1:c.283C>T	ENSP00000494205.1:p.Arg95Trp
ENST00000646562.1:c.*246C>T	ENSP00000496087.1:n.*246C>T
ENST00000647468.2:c.412C>T MANE Select	ENSP00000496731.1:p.Arg138Trp
ENST00000648111.1:c.*56C>T	ENSP00000497275.1:n.*56C>T
ENST00000367101.5:c.412C>T	ENSP00000356068.1:p.Arg138Trp
ENST00000367104.7:c.412C>T	ENSP00000356071.3:p.Arg138Trp
ENST00000606965.5:c.412C>T	ENSP00000475808.1:p.Arg138Trp
ENST00000607000.1:c.412C>T	ENSP00000475788.1:p.Arg138Trp
ENST00000607071.5:c.*246C>T	ENSP00000475855.1:n.*246C>T
ENST00000607742.5:c.*246C>T	ENSP00000475523.1:n.*246C>T
NM_032861.3:c.412C>T	NP_116250.3:p.Arg138Trp
NR_073096.1:n.554C>T
XM_006715586.1:c.202C>T	XP_006715649.1:p.Arg68Trp
XM_011536196.1:c.391C>T	XP_011534498.1:p.Arg131Trp
XM_011536197.1:c.412C>T	XP_011534499.1:p.Arg138Trp
XM_011536198.1:c.202C>T	XP_011534500.1:p.Arg68Trp
XR_942606.1:n.413C>T
XM_006715586.3:c.202C>T	XP_006715649.1:p.Arg68Trp
XM_011536196.3:c.391C>T	XP_011534498.1:p.Arg131Trp
XM_011536198.3:c.202C>T	XP_011534500.1:p.Arg68Trp
XM_024446573.1:c.412C>T	XP_024302341.1:p.Arg138Trp
XR_001743697.2:n.493C>T
XR_942606.2:n.544C>T
NM_032861.4:c.412C>T MANE Select	NP_116250.3:p.Arg138Trp
NR_073096.2:n.536C>T