Canonical Allele Identifier: CA366255185

Gene: SERAC1

Linked Data

• gnomAD v4: 6-158114927-C-G
• MyVariant Identifiers: chr6:g.158535959C>G (hg19) ; chr6:g.158114927C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114927C>G , CM000668.2:g.158114927C>G	GRCh38
NC_000006.11:g.158535959C>G , CM000668.1:g.158535959C>G	GRCh37
NC_000006.10:g.158455947C>G	NCBI36
NG_032889.1:g.58354G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435180.6:c.758G>C	ENSP00000391168.2:n.758G>C
ENST00000607071.6:c.*1266G>C	ENSP00000475855.1:n.*1266G>C
ENST00000642244.1:c.1456G>C	ENSP00000493554.1:p.Glu486Gln
ENST00000642903.1:c.1546G>C	ENSP00000493559.1:p.Glu516Gln
ENST00000644972.1:c.1546G>C	ENSP00000496451.1:p.Glu516Gln
ENST00000645077.1:c.*1167G>C	ENSP00000496113.1:n.*1167G>C
ENST00000645172.1:c.*1248G>C	ENSP00000495367.1:n.*1248G>C
ENST00000646190.1:n.2877G>C
ENST00000646208.1:c.1282G>C	ENSP00000493723.1:p.Glu428Gln
ENST00000646410.1:c.1417G>C	ENSP00000494205.1:p.Glu473Gln
ENST00000646562.1:c.*1380G>C	ENSP00000496087.1:n.*1380G>C
ENST00000647468.2:c.1546G>C MANE Select	ENSP00000496731.1:p.Glu516Gln
ENST00000648111.1:c.*1234G>C	ENSP00000497275.1:n.*1234G>C
ENST00000367101.5:c.1590G>C	ENSP00000356068.1:p.Gln530His
ENST00000367104.7:c.1546G>C	ENSP00000356071.3:p.Glu516Gln
ENST00000435180.5:c.271G>C	ENSP00000391168.1:p.Glu91Gln
ENST00000606965.5:c.*107G>C	ENSP00000475808.1:n.*107G>C
ENST00000607071.5:c.*1480G>C	ENSP00000475855.1:n.*1480G>C
ENST00000607742.5:c.*2824G>C	ENSP00000475523.1:n.*2824G>C
NM_032861.3:c.1546G>C	NP_116250.3:p.Glu516Gln
NR_073096.1:n.1479G>C
XM_006715586.1:c.1336G>C	XP_006715649.1:p.Glu446Gln
XM_011536196.1:c.1525G>C	XP_011534498.1:p.Glu509Gln
XM_011536197.1:c.1432G>C	XP_011534499.1:p.Glu478Gln
XM_011536198.1:c.1336G>C	XP_011534500.1:p.Glu446Gln
XM_006715586.3:c.1336G>C	XP_006715649.1:p.Glu446Gln
XM_011536196.3:c.1525G>C	XP_011534498.1:p.Glu509Gln
XM_011536198.3:c.1336G>C	XP_011534500.1:p.Glu446Gln
XM_024446573.1:c.1546G>C	XP_024302341.1:p.Glu516Gln
XR_001743697.2:n.1577G>C
XR_942606.2:n.1628G>C
NM_032861.4:c.1546G>C MANE Select	NP_116250.3:p.Glu516Gln
NR_073096.2:n.1461G>C