Canonical Allele Identifier: CA4071029

Gene: SERAC1

Linked Data

• dbSNP Id: rs369055467
• ExAC: 6:158535980 A / G
• gnomAD v2: 6-158535980-A-G
• gnomAD v3: 6-158114948-A-G
• gnomAD v4: 6-158114948-A-G
• MyVariant Identifiers: chr6:g.158535980A>G (hg19) ; chr6:g.158114948A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114948A>G , CM000668.2:g.158114948A>G	GRCh38
NC_000006.11:g.158535980A>G , CM000668.1:g.158535980A>G	GRCh37
NC_000006.10:g.158455968A>G	NCBI36
NG_032889.1:g.58333T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435180.6:c.737T>C	ENSP00000391168.2:n.737T>C
ENST00000607071.6:c.*1245T>C	ENSP00000475855.1:n.*1245T>C
ENST00000642244.1:c.1435T>C	ENSP00000493554.1:p.Leu479=
ENST00000642903.1:c.1525T>C	ENSP00000493559.1:p.Leu509=
ENST00000644972.1:c.1525T>C	ENSP00000496451.1:p.Leu509=
ENST00000645077.1:c.*1146T>C	ENSP00000496113.1:n.*1146T>C
ENST00000645172.1:c.*1227T>C	ENSP00000495367.1:n.*1227T>C
ENST00000646190.1:n.2856T>C
ENST00000646208.1:c.1261T>C	ENSP00000493723.1:p.Leu421=
ENST00000646410.1:c.1396T>C	ENSP00000494205.1:p.Leu466=
ENST00000646562.1:c.*1359T>C	ENSP00000496087.1:n.*1359T>C
ENST00000647468.2:c.1525T>C MANE Select	ENSP00000496731.1:p.Leu509=
ENST00000648111.1:c.*1213T>C	ENSP00000497275.1:n.*1213T>C
ENST00000367101.5:c.1569T>C	ENSP00000356068.1:p.Cys523=
ENST00000367104.7:c.1525T>C	ENSP00000356071.3:p.Leu509=
ENST00000435180.5:c.250T>C	ENSP00000391168.1:p.Leu84=
ENST00000606965.5:c.*86T>C	ENSP00000475808.1:n.*86T>C
ENST00000607071.5:c.*1459T>C	ENSP00000475855.1:n.*1459T>C
ENST00000607742.5:c.*2803T>C	ENSP00000475523.1:n.*2803T>C
NM_032861.3:c.1525T>C	NP_116250.3:p.Leu509=
NR_073096.1:n.1458T>C
XM_006715586.1:c.1315T>C	XP_006715649.1:p.Leu439=
XM_011536196.1:c.1504T>C	XP_011534498.1:p.Leu502=
XM_011536197.1:c.1411T>C	XP_011534499.1:p.Leu471=
XM_011536198.1:c.1315T>C	XP_011534500.1:p.Leu439=
XM_006715586.3:c.1315T>C	XP_006715649.1:p.Leu439=
XM_011536196.3:c.1504T>C	XP_011534498.1:p.Leu502=
XM_011536198.3:c.1315T>C	XP_011534500.1:p.Leu439=
XM_024446573.1:c.1525T>C	XP_024302341.1:p.Leu509=
XR_001743697.2:n.1556T>C
XR_942606.2:n.1607T>C
NM_032861.4:c.1525T>C MANE Select	NP_116250.3:p.Leu509=
NR_073096.2:n.1440T>C