Canonical Allele Identifier: CA4070929

Gene: SERAC1

Linked Data

• ClinVar Variation Id: 378571
• ClinVar RCV Id: RCV000420287 ; RCV001424388
• dbSNP Id: rs374374755
• ExAC: 6:158534471 G / C
• gnomAD v2: 6-158534471-G-C
• gnomAD v3: 6-158113439-G-C
• gnomAD v4: 6-158113439-G-C
• MyVariant Identifiers: chr6:g.158534471G>C (hg19) ; chr6:g.158113439G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158113439G>C , CM000668.2:g.158113439G>C	GRCh38
NC_000006.11:g.158534471G>C , CM000668.1:g.158534471G>C	GRCh37
NC_000006.10:g.158454459G>C	NCBI36
NG_032889.1:g.59842C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*1548+10C>G	ENSP00000475855.1:n.*1548+10C>G
ENST00000642244.1:c.1738+10C>G	ENSP00000493554.1:n.1738+10C>G
ENST00000644972.1:c.1838C>G	ENSP00000496451.1:p.Ser613Cys
ENST00000645077.1:c.*1459C>G	ENSP00000496113.1:n.*1459C>G
ENST00000645172.1:c.*1530+10C>G	ENSP00000495367.1:n.*1530+10C>G
ENST00000646190.1:n.3159+10C>G
ENST00000646208.1:c.1564+10C>G	ENSP00000493723.1:n.1564+10C>G
ENST00000646410.1:c.1699+10C>G	ENSP00000494205.1:n.1699+10C>G
ENST00000647468.2:c.1828+10C>G MANE Select	ENSP00000496731.1:n.1828+10C>G
ENST00000648111.1:c.*1516+10C>G	ENSP00000497275.1:n.*1516+10C>G
ENST00000367104.7:c.1828+10C>G	ENSP00000356071.3:n.1828+10C>G
ENST00000607071.5:c.*1762+10C>G	ENSP00000475855.1:n.*1762+10C>G
ENST00000607742.5:c.*3106+10C>G	ENSP00000475523.1:n.*3106+10C>G
NM_032861.3:c.1828+10C>G	NP_116250.3:n.1828+10C>G
XM_006715586.1:c.1618+10C>G	XP_006715649.1:n.1618+10C>G
XM_011536196.1:c.1807+10C>G	XP_011534498.1:n.1807+10C>G
XM_011536197.1:c.1714+10C>G	XP_011534499.1:n.1714+10C>G
XM_011536198.1:c.1618+10C>G	XP_011534500.1:n.1618+10C>G
XM_006715586.3:c.1618+10C>G	XP_006715649.1:n.1618+10C>G
XM_011536196.3:c.1807+10C>G	XP_011534498.1:n.1807+10C>G
XM_011536198.3:c.1618+10C>G	XP_011534500.1:n.1618+10C>G
XM_024446573.1:c.1828+10C>G	XP_024302341.1:n.1828+10C>G
XR_001743697.2:n.1859+10C>G
XR_942606.2:n.1910+10C>G
NM_032861.4:c.1828+10C>G MANE Select	NP_116250.3:n.1828+10C>G