Canonical Allele Identifier: CA4071004

Gene: SERAC1

Linked Data

• dbSNP Id: rs564762304
• ExAC: 6:158535827 T / G
• gnomAD v2: 6-158535827-T-G
• gnomAD v3: 6-158114795-T-G
• gnomAD v4: 6-158114795-T-G
• MyVariant Identifiers: chr6:g.158535827T>G (hg19) ; chr6:g.158114795T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114795T>G , CM000668.2:g.158114795T>G	GRCh38
NC_000006.11:g.158535827T>G , CM000668.1:g.158535827T>G	GRCh37
NC_000006.10:g.158455815T>G	NCBI36
NG_032889.1:g.58486A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*1398A>C	ENSP00000475855.1:n.*1398A>C
ENST00000642244.1:c.1588A>C	ENSP00000493554.1:p.Ser530Arg
ENST00000642903.1:c.1678A>C	ENSP00000493559.1:p.Ser560Arg
ENST00000644972.1:c.1678A>C	ENSP00000496451.1:p.Ser560Arg
ENST00000645077.1:c.*1299A>C	ENSP00000496113.1:n.*1299A>C
ENST00000645172.1:c.*1380A>C	ENSP00000495367.1:n.*1380A>C
ENST00000646190.1:n.3009A>C
ENST00000646208.1:c.1414A>C	ENSP00000493723.1:p.Ser472Arg
ENST00000646410.1:c.1549A>C	ENSP00000494205.1:p.Ser517Arg
ENST00000646562.1:c.*1512A>C	ENSP00000496087.1:n.*1512A>C
ENST00000647468.2:c.1678A>C MANE Select	ENSP00000496731.1:p.Ser560Arg
ENST00000648111.1:c.*1366A>C	ENSP00000497275.1:n.*1366A>C
ENST00000367101.5:c.*126A>C	ENSP00000356068.1:n.*126A>C
ENST00000367104.7:c.1678A>C	ENSP00000356071.3:p.Ser560Arg
ENST00000435180.5:c.403A>C	ENSP00000391168.1:p.Ser135Arg
ENST00000606965.5:c.*239A>C	ENSP00000475808.1:n.*239A>C
ENST00000607071.5:c.*1612A>C	ENSP00000475855.1:n.*1612A>C
ENST00000607742.5:c.*2956A>C	ENSP00000475523.1:n.*2956A>C
NM_032861.3:c.1678A>C	NP_116250.3:p.Ser560Arg
NR_073096.1:n.1611A>C
XM_006715586.1:c.1468A>C	XP_006715649.1:p.Ser490Arg
XM_011536196.1:c.1657A>C	XP_011534498.1:p.Ser553Arg
XM_011536197.1:c.1564A>C	XP_011534499.1:p.Ser522Arg
XM_011536198.1:c.1468A>C	XP_011534500.1:p.Ser490Arg
XM_006715586.3:c.1468A>C	XP_006715649.1:p.Ser490Arg
XM_011536196.3:c.1657A>C	XP_011534498.1:p.Ser553Arg
XM_011536198.3:c.1468A>C	XP_011534500.1:p.Ser490Arg
XM_024446573.1:c.1678A>C	XP_024302341.1:p.Ser560Arg
XR_001743697.2:n.1709A>C
XR_942606.2:n.1760A>C
NM_032861.4:c.1678A>C MANE Select	NP_116250.3:p.Ser560Arg
NR_073096.2:n.1593A>C