Canonical Allele Identifier: CA366256718

Gene: SERAC1

Linked Data

• ClinVar Variation Id: 430610
• ClinVar RCV Id: RCV000494708
• dbSNP Id: rs1131690799
• gnomAD v2: 6-158538758-C-G
• gnomAD v3: 6-158117726-C-G
• gnomAD v4: 6-158117726-C-G
• MyVariant Identifiers: chr6:g.158538758C>G (hg19) ; chr6:g.158117726C>G (hg38)
• PubMed: PMID:16527507

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158117726C>G , CM000668.2:g.158117726C>G	GRCh38
NC_000006.11:g.158538758C>G , CM000668.1:g.158538758C>G	GRCh37
NC_000006.10:g.158458746C>G	NCBI36
NG_032889.1:g.55555G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000435180.6:c.615+1G>C	ENSP00000391168.2:n.615+1G>C
ENST00000607071.6:c.*1123+1G>C	ENSP00000475855.1:n.*1123+1G>C
ENST00000642244.1:c.1313+1G>C	ENSP00000493554.1:n.1313+1G>C
ENST00000642903.1:c.1403+1G>C	ENSP00000493559.1:n.1403+1G>C
ENST00000644972.1:c.1403+1G>C	ENSP00000496451.1:n.1403+1G>C
ENST00000645077.1:c.*1024+1G>C	ENSP00000496113.1:n.*1024+1G>C
ENST00000645172.1:c.*1105+1G>C	ENSP00000495367.1:n.*1105+1G>C
ENST00000646190.1:n.2734+1G>C
ENST00000646208.1:c.1139+1G>C	ENSP00000493723.1:n.1139+1G>C
ENST00000646410.1:c.1274+1G>C	ENSP00000494205.1:n.1274+1G>C
ENST00000646562.1:c.*1237+1G>C	ENSP00000496087.1:n.*1237+1G>C
ENST00000647468.2:c.1403+1G>C MANE Select	ENSP00000496731.1:n.1403+1G>C
ENST00000648111.1:c.*1047+1G>C	ENSP00000497275.1:n.*1047+1G>C
ENST00000367101.5:c.1403+1G>C	ENSP00000356068.1:n.1403+1G>C
ENST00000367104.7:c.1403+1G>C	ENSP00000356071.3:n.1403+1G>C
ENST00000435180.5:c.128+1G>C	ENSP00000391168.1:n.128+1G>C
ENST00000606965.5:c.1194+1303G>C	ENSP00000475808.1:n.1194+1303G>C
ENST00000607071.5:c.*1337+1G>C	ENSP00000475855.1:n.*1337+1G>C
ENST00000607742.5:c.*1238G>C	ENSP00000475523.1:n.*1238G>C
NM_032861.3:c.1403+1G>C	NP_116250.3:n.1403+1G>C
NR_073096.1:n.1336+1303G>C
XM_006715586.1:c.1193+1G>C	XP_006715649.1:n.1193+1G>C
XM_011536196.1:c.1382+1G>C	XP_011534498.1:n.1382+1G>C
XM_011536197.1:c.1289+1G>C	XP_011534499.1:n.1289+1G>C
XM_011536198.1:c.1193+1G>C	XP_011534500.1:n.1193+1G>C
XM_006715586.3:c.1193+1G>C	XP_006715649.1:n.1193+1G>C
XM_011536196.3:c.1382+1G>C	XP_011534498.1:n.1382+1G>C
XM_011536198.3:c.1193+1G>C	XP_011534500.1:n.1193+1G>C
XM_024446573.1:c.1403+1G>C	XP_024302341.1:n.1403+1G>C
XR_001743697.2:n.1434+1G>C
XR_942606.2:n.1485+1G>C
NM_032861.4:c.1403+1G>C MANE Select	NP_116250.3:n.1403+1G>C
NR_073096.2:n.1318+1303G>C