Canonical Allele Identifier: CA366254974

Gene: SERAC1

Linked Data

• gnomAD v4: 6-158114833-C-G
• MyVariant Identifiers: chr6:g.158535865C>G (hg19) ; chr6:g.158114833C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114833C>G , CM000668.2:g.158114833C>G	GRCh38
NC_000006.11:g.158535865C>G , CM000668.1:g.158535865C>G	GRCh37
NC_000006.10:g.158455853C>G	NCBI36
NG_032889.1:g.58448G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000435180.6:c.852G>C	ENSP00000391168.2:n.852G>C
ENST00000607071.6:c.*1360G>C	ENSP00000475855.1:n.*1360G>C
ENST00000642244.1:c.1550G>C	ENSP00000493554.1:p.Arg517Pro
ENST00000642903.1:c.1640G>C	ENSP00000493559.1:p.Arg547Pro
ENST00000644972.1:c.1640G>C	ENSP00000496451.1:p.Arg547Pro
ENST00000645077.1:c.*1261G>C	ENSP00000496113.1:n.*1261G>C
ENST00000645172.1:c.*1342G>C	ENSP00000495367.1:n.*1342G>C
ENST00000646190.1:n.2971G>C
ENST00000646208.1:c.1376G>C	ENSP00000493723.1:p.Arg459Pro
ENST00000646410.1:c.1511G>C	ENSP00000494205.1:p.Arg504Pro
ENST00000646562.1:c.*1474G>C	ENSP00000496087.1:n.*1474G>C
ENST00000647468.2:c.1640G>C MANE Select	ENSP00000496731.1:p.Arg547Pro
ENST00000648111.1:c.*1328G>C	ENSP00000497275.1:n.*1328G>C
ENST00000367101.5:c.*88G>C	ENSP00000356068.1:n.*88G>C
ENST00000367104.7:c.1640G>C	ENSP00000356071.3:p.Arg547Pro
ENST00000435180.5:c.365G>C	ENSP00000391168.1:p.Arg122Pro
ENST00000606965.5:c.*201G>C	ENSP00000475808.1:n.*201G>C
ENST00000607071.5:c.*1574G>C	ENSP00000475855.1:n.*1574G>C
ENST00000607742.5:c.*2918G>C	ENSP00000475523.1:n.*2918G>C
NM_032861.3:c.1640G>C	NP_116250.3:p.Arg547Pro
NR_073096.1:n.1573G>C
XM_006715586.1:c.1430G>C	XP_006715649.1:p.Arg477Pro
XM_011536196.1:c.1619G>C	XP_011534498.1:p.Arg540Pro
XM_011536197.1:c.1526G>C	XP_011534499.1:p.Arg509Pro
XM_011536198.1:c.1430G>C	XP_011534500.1:p.Arg477Pro
XM_006715586.3:c.1430G>C	XP_006715649.1:p.Arg477Pro
XM_011536196.3:c.1619G>C	XP_011534498.1:p.Arg540Pro
XM_011536198.3:c.1430G>C	XP_011534500.1:p.Arg477Pro
XM_024446573.1:c.1640G>C	XP_024302341.1:p.Arg547Pro
XR_001743697.2:n.1671G>C
XR_942606.2:n.1722G>C
NM_032861.4:c.1640G>C MANE Select	NP_116250.3:p.Arg547Pro
NR_073096.2:n.1555G>C