Canonical Allele Identifier: CA366255238

Gene: SERAC1

Linked Data

• gnomAD v4: 6-158114946-C-T
• MyVariant Identifiers: chr6:g.158535978C>T (hg19) ; chr6:g.158114946C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114946C>T , CM000668.2:g.158114946C>T	GRCh38
NC_000006.11:g.158535978C>T , CM000668.1:g.158535978C>T	GRCh37
NC_000006.10:g.158455966C>T	NCBI36
NG_032889.1:g.58335G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435180.6:c.739G>A	ENSP00000391168.2:n.739G>A
ENST00000607071.6:c.*1247G>A	ENSP00000475855.1:n.*1247G>A
ENST00000642244.1:c.1437G>A	ENSP00000493554.1:p.Leu479=
ENST00000642903.1:c.1527G>A	ENSP00000493559.1:p.Leu509=
ENST00000644972.1:c.1527G>A	ENSP00000496451.1:p.Leu509=
ENST00000645077.1:c.*1148G>A	ENSP00000496113.1:n.*1148G>A
ENST00000645172.1:c.*1229G>A	ENSP00000495367.1:n.*1229G>A
ENST00000646190.1:n.2858G>A
ENST00000646208.1:c.1263G>A	ENSP00000493723.1:p.Leu421=
ENST00000646410.1:c.1398G>A	ENSP00000494205.1:p.Leu466=
ENST00000646562.1:c.*1361G>A	ENSP00000496087.1:n.*1361G>A
ENST00000647468.2:c.1527G>A MANE Select	ENSP00000496731.1:p.Leu509=
ENST00000648111.1:c.*1215G>A	ENSP00000497275.1:n.*1215G>A
ENST00000367101.5:c.1571G>A	ENSP00000356068.1:p.Trp524Ter
ENST00000367104.7:c.1527G>A	ENSP00000356071.3:p.Leu509=
ENST00000435180.5:c.252G>A	ENSP00000391168.1:p.Leu84=
ENST00000606965.5:c.*88G>A	ENSP00000475808.1:n.*88G>A
ENST00000607071.5:c.*1461G>A	ENSP00000475855.1:n.*1461G>A
ENST00000607742.5:c.*2805G>A	ENSP00000475523.1:n.*2805G>A
NM_032861.3:c.1527G>A	NP_116250.3:p.Leu509=
NR_073096.1:n.1460G>A
XM_006715586.1:c.1317G>A	XP_006715649.1:p.Leu439=
XM_011536196.1:c.1506G>A	XP_011534498.1:p.Leu502=
XM_011536197.1:c.1413G>A	XP_011534499.1:p.Leu471=
XM_011536198.1:c.1317G>A	XP_011534500.1:p.Leu439=
XM_006715586.3:c.1317G>A	XP_006715649.1:p.Leu439=
XM_011536196.3:c.1506G>A	XP_011534498.1:p.Leu502=
XM_011536198.3:c.1317G>A	XP_011534500.1:p.Leu439=
XM_024446573.1:c.1527G>A	XP_024302341.1:p.Leu509=
XR_001743697.2:n.1558G>A
XR_942606.2:n.1609G>A
NM_032861.4:c.1527G>A MANE Select	NP_116250.3:p.Leu509=
NR_073096.2:n.1442G>A