Canonical Allele Identifier: CA150915141

Gene: SERAC1

Linked Data

• dbSNP Id: rs772764368
• gnomAD v4: 6-158114911-A-G
• MyVariant Identifiers: chr6:g.158535943A>G (hg19) ; chr6:g.158114911A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114911A>G , CM000668.2:g.158114911A>G	GRCh38
NC_000006.11:g.158535943A>G , CM000668.1:g.158535943A>G	GRCh37
NC_000006.10:g.158455931A>G	NCBI36
NG_032889.1:g.58370T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435180.6:c.774T>C	ENSP00000391168.2:n.774T>C
ENST00000607071.6:c.*1282T>C	ENSP00000475855.1:n.*1282T>C
ENST00000642244.1:c.1472T>C	ENSP00000493554.1:p.Ile491Thr
ENST00000642903.1:c.1562T>C	ENSP00000493559.1:p.Ile521Thr
ENST00000644972.1:c.1562T>C	ENSP00000496451.1:p.Ile521Thr
ENST00000645077.1:c.*1183T>C	ENSP00000496113.1:n.*1183T>C
ENST00000645172.1:c.*1264T>C	ENSP00000495367.1:n.*1264T>C
ENST00000646190.1:n.2893T>C
ENST00000646208.1:c.1298T>C	ENSP00000493723.1:p.Ile433Thr
ENST00000646410.1:c.1433T>C	ENSP00000494205.1:p.Ile478Thr
ENST00000646562.1:c.*1396T>C	ENSP00000496087.1:n.*1396T>C
ENST00000647468.2:c.1562T>C MANE Select	ENSP00000496731.1:p.Ile521Thr
ENST00000648111.1:c.*1250T>C	ENSP00000497275.1:n.*1250T>C
ENST00000367101.5:c.*10T>C	ENSP00000356068.1:n.*10T>C
ENST00000367104.7:c.1562T>C	ENSP00000356071.3:p.Ile521Thr
ENST00000435180.5:c.287T>C	ENSP00000391168.1:p.Ile96Thr
ENST00000606965.5:c.*123T>C	ENSP00000475808.1:n.*123T>C
ENST00000607071.5:c.*1496T>C	ENSP00000475855.1:n.*1496T>C
ENST00000607742.5:c.*2840T>C	ENSP00000475523.1:n.*2840T>C
NM_032861.3:c.1562T>C	NP_116250.3:p.Ile521Thr
NR_073096.1:n.1495T>C
XM_006715586.1:c.1352T>C	XP_006715649.1:p.Ile451Thr
XM_011536196.1:c.1541T>C	XP_011534498.1:p.Ile514Thr
XM_011536197.1:c.1448T>C	XP_011534499.1:p.Ile483Thr
XM_011536198.1:c.1352T>C	XP_011534500.1:p.Ile451Thr
XM_006715586.3:c.1352T>C	XP_006715649.1:p.Ile451Thr
XM_011536196.3:c.1541T>C	XP_011534498.1:p.Ile514Thr
XM_011536198.3:c.1352T>C	XP_011534500.1:p.Ile451Thr
XM_024446573.1:c.1562T>C	XP_024302341.1:p.Ile521Thr
XR_001743697.2:n.1593T>C
XR_942606.2:n.1644T>C
NM_032861.4:c.1562T>C MANE Select	NP_116250.3:p.Ile521Thr
NR_073096.2:n.1477T>C