Canonical Allele Identifier: CA366254891

Gene: SERAC1

Linked Data

• gnomAD v4: 6-158114794-C-A
• MyVariant Identifiers: chr6:g.158535826C>A (hg19) ; chr6:g.158114794C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114794C>A , CM000668.2:g.158114794C>A	GRCh38
NC_000006.11:g.158535826C>A , CM000668.1:g.158535826C>A	GRCh37
NC_000006.10:g.158455814C>A	NCBI36
NG_032889.1:g.58487G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*1399G>T	ENSP00000475855.1:n.*1399G>T
ENST00000642244.1:c.1589G>T	ENSP00000493554.1:p.Ser530Ile
ENST00000642903.1:c.1679G>T	ENSP00000493559.1:p.Ser560Ile
ENST00000644972.1:c.1679G>T	ENSP00000496451.1:p.Ser560Ile
ENST00000645077.1:c.*1300G>T	ENSP00000496113.1:n.*1300G>T
ENST00000645172.1:c.*1381G>T	ENSP00000495367.1:n.*1381G>T
ENST00000646190.1:n.3010G>T
ENST00000646208.1:c.1415G>T	ENSP00000493723.1:p.Ser472Ile
ENST00000646410.1:c.1550G>T	ENSP00000494205.1:p.Ser517Ile
ENST00000646562.1:c.*1513G>T	ENSP00000496087.1:n.*1513G>T
ENST00000647468.2:c.1679G>T MANE Select	ENSP00000496731.1:p.Ser560Ile
ENST00000648111.1:c.*1367G>T	ENSP00000497275.1:n.*1367G>T
ENST00000367101.5:c.*127G>T	ENSP00000356068.1:n.*127G>T
ENST00000367104.7:c.1679G>T	ENSP00000356071.3:p.Ser560Ile
ENST00000435180.5:c.404G>T	ENSP00000391168.1:p.Ser135Ile
ENST00000606965.5:c.*240G>T	ENSP00000475808.1:n.*240G>T
ENST00000607071.5:c.*1613G>T	ENSP00000475855.1:n.*1613G>T
ENST00000607742.5:c.*2957G>T	ENSP00000475523.1:n.*2957G>T
NM_032861.3:c.1679G>T	NP_116250.3:p.Ser560Ile
NR_073096.1:n.1612G>T
XM_006715586.1:c.1469G>T	XP_006715649.1:p.Ser490Ile
XM_011536196.1:c.1658G>T	XP_011534498.1:p.Ser553Ile
XM_011536197.1:c.1565G>T	XP_011534499.1:p.Ser522Ile
XM_011536198.1:c.1469G>T	XP_011534500.1:p.Ser490Ile
XM_006715586.3:c.1469G>T	XP_006715649.1:p.Ser490Ile
XM_011536196.3:c.1658G>T	XP_011534498.1:p.Ser553Ile
XM_011536198.3:c.1469G>T	XP_011534500.1:p.Ser490Ile
XM_024446573.1:c.1679G>T	XP_024302341.1:p.Ser560Ile
XR_001743697.2:n.1710G>T
XR_942606.2:n.1761G>T
NM_032861.4:c.1679G>T MANE Select	NP_116250.3:p.Ser560Ile
NR_073096.2:n.1594G>T