Canonical Allele Identifier: CA452822492

Gene: SERAC1

Linked Data

• ClinVar Variation Id: 3046880
• ClinVar RCV Id: RCV003934614
• gnomAD v4: 6-158150532-A-G
• MyVariant Identifiers: chr6:g.158571564A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158150532A>G , CM000668.2:g.158150532A>G	GRCh38
NC_000006.11:g.158571564A>G , CM000668.1:g.158571564A>G	GRCh37
NC_000006.10:g.158491552A>G	NCBI36
NG_032889.1:g.22749T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000607071.6:c.*20T>C	ENSP00000475855.1:n.*20T>C
ENST00000642244.1:c.186T>C	ENSP00000493554.1:p.Asp62=
ENST00000642903.1:c.186T>C	ENSP00000493559.1:p.Asp62=
ENST00000643093.1:n.236T>C
ENST00000644972.1:c.186T>C	ENSP00000496451.1:p.Asp62=
ENST00000645077.1:c.*20T>C	ENSP00000496113.1:n.*20T>C
ENST00000645172.1:c.*20T>C	ENSP00000495367.1:n.*20T>C
ENST00000646190.1:n.1417T>C
ENST00000646208.1:c.92-3619T>C	ENSP00000493723.1:n.92-3619T>C
ENST00000646410.1:c.147T>C	ENSP00000494205.1:p.Asp49=
ENST00000646562.1:c.*20T>C	ENSP00000496087.1:n.*20T>C
ENST00000647468.2:c.186T>C MANE Select	ENSP00000496731.1:p.Asp62=
ENST00000648111.1:c.160T>C	ENSP00000497275.1:p.Tyr54His
ENST00000367101.5:c.186T>C	ENSP00000356068.1:p.Asp62=
ENST00000367104.7:c.186T>C	ENSP00000356071.3:p.Asp62=
ENST00000606965.5:c.186T>C	ENSP00000475808.1:p.Asp62=
ENST00000607000.1:c.186T>C	ENSP00000475788.1:p.Asp62=
ENST00000607071.5:c.*20T>C	ENSP00000475855.1:n.*20T>C
ENST00000607742.5:c.*20T>C	ENSP00000475523.1:n.*20T>C
NM_032861.3:c.186T>C	NP_116250.3:p.Asp62=
NR_073096.1:n.328T>C
XM_006715586.1:c.-25T>C	XP_006715649.1:n.-25T>C
XM_011536196.1:c.165T>C	XP_011534498.1:p.Asp55=
XM_011536197.1:c.186T>C	XP_011534499.1:p.Asp62=
XM_011536198.1:c.-25T>C	XP_011534500.1:n.-25T>C
XR_942606.1:n.187T>C
XM_006715586.3:c.-25T>C	XP_006715649.1:n.-25T>C
XM_011536196.3:c.165T>C	XP_011534498.1:p.Asp55=
XM_011536198.3:c.-25T>C	XP_011534500.1:n.-25T>C
XM_024446573.1:c.186T>C	XP_024302341.1:p.Asp62=
XR_001743697.2:n.267T>C
XR_942606.2:n.318T>C
NM_032861.4:c.186T>C MANE Select	NP_116250.3:p.Asp62=
NR_073096.2:n.310T>C