Canonical Allele Identifier: CA366266756

Gene: SERAC1

Linked Data

• ClinVar Variation Id: 2109751
• ClinVar RCV Id: RCV003042028
• gnomAD v4: 6-158150524-A-G
• MyVariant Identifiers: chr6:g.158571556A>G (hg19) ; chr6:g.158150524A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158150524A>G , CM000668.2:g.158150524A>G	GRCh38
NC_000006.11:g.158571556A>G , CM000668.1:g.158571556A>G	GRCh37
NC_000006.10:g.158491544A>G	NCBI36
NG_032889.1:g.22757T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000607071.6:c.*28T>C	ENSP00000475855.1:n.*28T>C
ENST00000642244.1:c.194T>C	ENSP00000493554.1:p.Val65Ala
ENST00000642903.1:c.194T>C	ENSP00000493559.1:p.Val65Ala
ENST00000643093.1:n.244T>C
ENST00000644972.1:c.194T>C	ENSP00000496451.1:p.Val65Ala
ENST00000645077.1:c.*28T>C	ENSP00000496113.1:n.*28T>C
ENST00000645172.1:c.*28T>C	ENSP00000495367.1:n.*28T>C
ENST00000646190.1:n.1425T>C
ENST00000646208.1:c.92-3611T>C	ENSP00000493723.1:n.92-3611T>C
ENST00000646410.1:c.155T>C	ENSP00000494205.1:p.Val52Ala
ENST00000646562.1:c.*28T>C	ENSP00000496087.1:n.*28T>C
ENST00000647468.2:c.194T>C MANE Select	ENSP00000496731.1:p.Val65Ala
ENST00000648111.1:c.168T>C	ENSP00000497275.1:p.Ser56=
ENST00000367101.5:c.194T>C	ENSP00000356068.1:p.Val65Ala
ENST00000367104.7:c.194T>C	ENSP00000356071.3:p.Val65Ala
ENST00000606965.5:c.194T>C	ENSP00000475808.1:p.Val65Ala
ENST00000607000.1:c.194T>C	ENSP00000475788.1:p.Val65Ala
ENST00000607071.5:c.*28T>C	ENSP00000475855.1:n.*28T>C
ENST00000607742.5:c.*28T>C	ENSP00000475523.1:n.*28T>C
NM_032861.3:c.194T>C	NP_116250.3:p.Val65Ala
NR_073096.1:n.336T>C
XM_006715586.1:c.-17T>C	XP_006715649.1:n.-17T>C
XM_011536196.1:c.173T>C	XP_011534498.1:p.Val58Ala
XM_011536197.1:c.194T>C	XP_011534499.1:p.Val65Ala
XM_011536198.1:c.-17T>C	XP_011534500.1:n.-17T>C
XR_942606.1:n.195T>C
XM_006715586.3:c.-17T>C	XP_006715649.1:n.-17T>C
XM_011536196.3:c.173T>C	XP_011534498.1:p.Val58Ala
XM_011536198.3:c.-17T>C	XP_011534500.1:n.-17T>C
XM_024446573.1:c.194T>C	XP_024302341.1:p.Val65Ala
XR_001743697.2:n.275T>C
XR_942606.2:n.326T>C
NM_032861.4:c.194T>C MANE Select	NP_116250.3:p.Val65Ala
NR_073096.2:n.318T>C