Canonical Allele Identifier: CA150915066

Gene: SERAC1

Linked Data

• dbSNP Id: rs769267605
• gnomAD v4: 6-158114868-A-G
• MyVariant Identifiers: chr6:g.158535900A>G (hg19) ; chr6:g.158114868A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114868A>G , CM000668.2:g.158114868A>G	GRCh38
NC_000006.11:g.158535900A>G , CM000668.1:g.158535900A>G	GRCh37
NC_000006.10:g.158455888A>G	NCBI36
NG_032889.1:g.58413T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435180.6:c.817T>C	ENSP00000391168.2:n.817T>C
ENST00000607071.6:c.*1325T>C	ENSP00000475855.1:n.*1325T>C
ENST00000642244.1:c.1515T>C	ENSP00000493554.1:p.His505=
ENST00000642903.1:c.1605T>C	ENSP00000493559.1:p.His535=
ENST00000644972.1:c.1605T>C	ENSP00000496451.1:p.His535=
ENST00000645077.1:c.*1226T>C	ENSP00000496113.1:n.*1226T>C
ENST00000645172.1:c.*1307T>C	ENSP00000495367.1:n.*1307T>C
ENST00000646190.1:n.2936T>C
ENST00000646208.1:c.1341T>C	ENSP00000493723.1:p.His447=
ENST00000646410.1:c.1476T>C	ENSP00000494205.1:p.His492=
ENST00000646562.1:c.*1439T>C	ENSP00000496087.1:n.*1439T>C
ENST00000647468.2:c.1605T>C MANE Select	ENSP00000496731.1:p.His535=
ENST00000648111.1:c.*1293T>C	ENSP00000497275.1:n.*1293T>C
ENST00000367101.5:c.*53T>C	ENSP00000356068.1:n.*53T>C
ENST00000367104.7:c.1605T>C	ENSP00000356071.3:p.His535=
ENST00000435180.5:c.330T>C	ENSP00000391168.1:p.His110=
ENST00000606965.5:c.*166T>C	ENSP00000475808.1:n.*166T>C
ENST00000607071.5:c.*1539T>C	ENSP00000475855.1:n.*1539T>C
ENST00000607742.5:c.*2883T>C	ENSP00000475523.1:n.*2883T>C
NM_032861.3:c.1605T>C	NP_116250.3:p.His535=
NR_073096.1:n.1538T>C
XM_006715586.1:c.1395T>C	XP_006715649.1:p.His465=
XM_011536196.1:c.1584T>C	XP_011534498.1:p.His528=
XM_011536197.1:c.1491T>C	XP_011534499.1:p.His497=
XM_011536198.1:c.1395T>C	XP_011534500.1:p.His465=
XM_006715586.3:c.1395T>C	XP_006715649.1:p.His465=
XM_011536196.3:c.1584T>C	XP_011534498.1:p.His528=
XM_011536198.3:c.1395T>C	XP_011534500.1:p.His465=
XM_024446573.1:c.1605T>C	XP_024302341.1:p.His535=
XR_001743697.2:n.1636T>C
XR_942606.2:n.1687T>C
NM_032861.4:c.1605T>C MANE Select	NP_116250.3:p.His535=
NR_073096.2:n.1520T>C