Canonical Allele Identifier: CA366254977

Gene: SERAC1

Linked Data

• dbSNP Id: rs1412209625
• gnomAD v3: 6-158114834-G-A
• gnomAD v4: 6-158114834-G-A
• COSMIC: COSM4724970
• MyVariant Identifiers: chr6:g.158535866G>A (hg19) ; chr6:g.158114834G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114834G>A , CM000668.2:g.158114834G>A	GRCh38
NC_000006.11:g.158535866G>A , CM000668.1:g.158535866G>A	GRCh37
NC_000006.10:g.158455854G>A	NCBI36
NG_032889.1:g.58447C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000435180.6:c.851C>T	ENSP00000391168.2:n.851C>T
ENST00000607071.6:c.*1359C>T	ENSP00000475855.1:n.*1359C>T
ENST00000642244.1:c.1549C>T	ENSP00000493554.1:p.Arg517Cys
ENST00000642903.1:c.1639C>T	ENSP00000493559.1:p.Arg547Cys
ENST00000644972.1:c.1639C>T	ENSP00000496451.1:p.Arg547Cys
ENST00000645077.1:c.*1260C>T	ENSP00000496113.1:n.*1260C>T
ENST00000645172.1:c.*1341C>T	ENSP00000495367.1:n.*1341C>T
ENST00000646190.1:n.2970C>T
ENST00000646208.1:c.1375C>T	ENSP00000493723.1:p.Arg459Cys
ENST00000646410.1:c.1510C>T	ENSP00000494205.1:p.Arg504Cys
ENST00000646562.1:c.*1473C>T	ENSP00000496087.1:n.*1473C>T
ENST00000647468.2:c.1639C>T MANE Select	ENSP00000496731.1:p.Arg547Cys
ENST00000648111.1:c.*1327C>T	ENSP00000497275.1:n.*1327C>T
ENST00000367101.5:c.*87C>T	ENSP00000356068.1:n.*87C>T
ENST00000367104.7:c.1639C>T	ENSP00000356071.3:p.Arg547Cys
ENST00000435180.5:c.364C>T	ENSP00000391168.1:p.Arg122Cys
ENST00000606965.5:c.*200C>T	ENSP00000475808.1:n.*200C>T
ENST00000607071.5:c.*1573C>T	ENSP00000475855.1:n.*1573C>T
ENST00000607742.5:c.*2917C>T	ENSP00000475523.1:n.*2917C>T
NM_032861.3:c.1639C>T	NP_116250.3:p.Arg547Cys
NR_073096.1:n.1572C>T
XM_006715586.1:c.1429C>T	XP_006715649.1:p.Arg477Cys
XM_011536196.1:c.1618C>T	XP_011534498.1:p.Arg540Cys
XM_011536197.1:c.1525C>T	XP_011534499.1:p.Arg509Cys
XM_011536198.1:c.1429C>T	XP_011534500.1:p.Arg477Cys
XM_006715586.3:c.1429C>T	XP_006715649.1:p.Arg477Cys
XM_011536196.3:c.1618C>T	XP_011534498.1:p.Arg540Cys
XM_011536198.3:c.1429C>T	XP_011534500.1:p.Arg477Cys
XM_024446573.1:c.1639C>T	XP_024302341.1:p.Arg547Cys
XR_001743697.2:n.1670C>T
XR_942606.2:n.1721C>T
NM_032861.4:c.1639C>T MANE Select	NP_116250.3:p.Arg547Cys
NR_073096.2:n.1554C>T