Canonical Allele Identifier: CA4071014

Gene: SERAC1

Linked Data

• dbSNP Id: rs780482026
• ExAC: 6:158535874 A / G
• gnomAD v2: 6-158535874-A-G
• gnomAD v4: 6-158114842-A-G
• MyVariant Identifiers: chr6:g.158535874A>G (hg19) ; chr6:g.158114842A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114842A>G , CM000668.2:g.158114842A>G	GRCh38
NC_000006.11:g.158535874A>G , CM000668.1:g.158535874A>G	GRCh37
NC_000006.10:g.158455862A>G	NCBI36
NG_032889.1:g.58439T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000435180.6:c.843T>C	ENSP00000391168.2:n.843T>C
ENST00000607071.6:c.*1351T>C	ENSP00000475855.1:n.*1351T>C
ENST00000642244.1:c.1541T>C	ENSP00000493554.1:p.Val514Ala
ENST00000642903.1:c.1631T>C	ENSP00000493559.1:p.Val544Ala
ENST00000644972.1:c.1631T>C	ENSP00000496451.1:p.Val544Ala
ENST00000645077.1:c.*1252T>C	ENSP00000496113.1:n.*1252T>C
ENST00000645172.1:c.*1333T>C	ENSP00000495367.1:n.*1333T>C
ENST00000646190.1:n.2962T>C
ENST00000646208.1:c.1367T>C	ENSP00000493723.1:p.Val456Ala
ENST00000646410.1:c.1502T>C	ENSP00000494205.1:p.Val501Ala
ENST00000646562.1:c.*1465T>C	ENSP00000496087.1:n.*1465T>C
ENST00000647468.2:c.1631T>C MANE Select	ENSP00000496731.1:p.Val544Ala
ENST00000648111.1:c.*1319T>C	ENSP00000497275.1:n.*1319T>C
ENST00000367101.5:c.*79T>C	ENSP00000356068.1:n.*79T>C
ENST00000367104.7:c.1631T>C	ENSP00000356071.3:p.Val544Ala
ENST00000435180.5:c.356T>C	ENSP00000391168.1:p.Val119Ala
ENST00000606965.5:c.*192T>C	ENSP00000475808.1:n.*192T>C
ENST00000607071.5:c.*1565T>C	ENSP00000475855.1:n.*1565T>C
ENST00000607742.5:c.*2909T>C	ENSP00000475523.1:n.*2909T>C
NM_032861.3:c.1631T>C	NP_116250.3:p.Val544Ala
NR_073096.1:n.1564T>C
XM_006715586.1:c.1421T>C	XP_006715649.1:p.Val474Ala
XM_011536196.1:c.1610T>C	XP_011534498.1:p.Val537Ala
XM_011536197.1:c.1517T>C	XP_011534499.1:p.Val506Ala
XM_011536198.1:c.1421T>C	XP_011534500.1:p.Val474Ala
XM_006715586.3:c.1421T>C	XP_006715649.1:p.Val474Ala
XM_011536196.3:c.1610T>C	XP_011534498.1:p.Val537Ala
XM_011536198.3:c.1421T>C	XP_011534500.1:p.Val474Ala
XM_024446573.1:c.1631T>C	XP_024302341.1:p.Val544Ala
XR_001743697.2:n.1662T>C
XR_942606.2:n.1713T>C
NM_032861.4:c.1631T>C MANE Select	NP_116250.3:p.Val544Ala
NR_073096.2:n.1546T>C