Canonical Allele Identifier: CA4071021

Gene: SERAC1

Linked Data

• dbSNP Id: rs759029732
• ExAC: 6:158535916 T / C
• gnomAD v2: 6-158535916-T-C
• gnomAD v4: 6-158114884-T-C
• MyVariant Identifiers: chr6:g.158535916T>C (hg19) ; chr6:g.158114884T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114884T>C , CM000668.2:g.158114884T>C	GRCh38
NC_000006.11:g.158535916T>C , CM000668.1:g.158535916T>C	GRCh37
NC_000006.10:g.158455904T>C	NCBI36
NG_032889.1:g.58397A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000435180.6:c.801A>G	ENSP00000391168.2:n.801A>G
ENST00000607071.6:c.*1309A>G	ENSP00000475855.1:n.*1309A>G
ENST00000642244.1:c.1499A>G	ENSP00000493554.1:p.Tyr500Cys
ENST00000642903.1:c.1589A>G	ENSP00000493559.1:p.Tyr530Cys
ENST00000644972.1:c.1589A>G	ENSP00000496451.1:p.Tyr530Cys
ENST00000645077.1:c.*1210A>G	ENSP00000496113.1:n.*1210A>G
ENST00000645172.1:c.*1291A>G	ENSP00000495367.1:n.*1291A>G
ENST00000646190.1:n.2920A>G
ENST00000646208.1:c.1325A>G	ENSP00000493723.1:p.Tyr442Cys
ENST00000646410.1:c.1460A>G	ENSP00000494205.1:p.Tyr487Cys
ENST00000646562.1:c.*1423A>G	ENSP00000496087.1:n.*1423A>G
ENST00000647468.2:c.1589A>G MANE Select	ENSP00000496731.1:p.Tyr530Cys
ENST00000648111.1:c.*1277A>G	ENSP00000497275.1:n.*1277A>G
ENST00000367101.5:c.*37A>G	ENSP00000356068.1:n.*37A>G
ENST00000367104.7:c.1589A>G	ENSP00000356071.3:p.Tyr530Cys
ENST00000435180.5:c.314A>G	ENSP00000391168.1:p.Tyr105Cys
ENST00000606965.5:c.*150A>G	ENSP00000475808.1:n.*150A>G
ENST00000607071.5:c.*1523A>G	ENSP00000475855.1:n.*1523A>G
ENST00000607742.5:c.*2867A>G	ENSP00000475523.1:n.*2867A>G
NM_032861.3:c.1589A>G	NP_116250.3:p.Tyr530Cys
NR_073096.1:n.1522A>G
XM_006715586.1:c.1379A>G	XP_006715649.1:p.Tyr460Cys
XM_011536196.1:c.1568A>G	XP_011534498.1:p.Tyr523Cys
XM_011536197.1:c.1475A>G	XP_011534499.1:p.Tyr492Cys
XM_011536198.1:c.1379A>G	XP_011534500.1:p.Tyr460Cys
XM_006715586.3:c.1379A>G	XP_006715649.1:p.Tyr460Cys
XM_011536196.3:c.1568A>G	XP_011534498.1:p.Tyr523Cys
XM_011536198.3:c.1379A>G	XP_011534500.1:p.Tyr460Cys
XM_024446573.1:c.1589A>G	XP_024302341.1:p.Tyr530Cys
XR_001743697.2:n.1620A>G
XR_942606.2:n.1671A>G
NM_032861.4:c.1589A>G MANE Select	NP_116250.3:p.Tyr530Cys
NR_073096.2:n.1504A>G