Canonical Allele Identifier: CA366264709

Gene: SERAC1

Linked Data

• gnomAD v4: 6-158146852-C-G
• MyVariant Identifiers: chr6:g.158567884C>G (hg19) ; chr6:g.158146852C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158146852C>G , CM000668.2:g.158146852C>G	GRCh38
NC_000006.11:g.158567884C>G , CM000668.1:g.158567884C>G	GRCh37
NC_000006.10:g.158487872C>G	NCBI36
NG_032889.1:g.26429G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*251G>C	ENSP00000475855.1:n.*251G>C
ENST00000642244.1:c.327G>C	ENSP00000493554.1:p.Lys109Asn
ENST00000642903.1:c.417G>C	ENSP00000493559.1:p.Lys139Asn
ENST00000644972.1:c.417G>C	ENSP00000496451.1:p.Lys139Asn
ENST00000645077.1:c.*251G>C	ENSP00000496113.1:n.*251G>C
ENST00000645172.1:c.*189+2013G>C	ENSP00000495367.1:n.*189+2013G>C
ENST00000646190.1:n.1648G>C
ENST00000646208.1:c.153G>C	ENSP00000493723.1:p.Lys51Asn
ENST00000646410.1:c.288G>C	ENSP00000494205.1:p.Lys96Asn
ENST00000646562.1:c.*251G>C	ENSP00000496087.1:n.*251G>C
ENST00000647468.2:c.417G>C MANE Select	ENSP00000496731.1:p.Lys139Asn
ENST00000648111.1:c.*61G>C	ENSP00000497275.1:n.*61G>C
ENST00000367101.5:c.417G>C	ENSP00000356068.1:p.Lys139Asn
ENST00000367104.7:c.417G>C	ENSP00000356071.3:p.Lys139Asn
ENST00000606965.5:c.417G>C	ENSP00000475808.1:p.Lys139Asn
ENST00000607000.1:c.417G>C	ENSP00000475788.1:p.Lys139Asn
ENST00000607071.5:c.*251G>C	ENSP00000475855.1:n.*251G>C
ENST00000607742.5:c.*251G>C	ENSP00000475523.1:n.*251G>C
NM_032861.3:c.417G>C	NP_116250.3:p.Lys139Asn
NR_073096.1:n.559G>C
XM_006715586.1:c.207G>C	XP_006715649.1:p.Lys69Asn
XM_011536196.1:c.396G>C	XP_011534498.1:p.Lys132Asn
XM_011536197.1:c.417G>C	XP_011534499.1:p.Lys139Asn
XM_011536198.1:c.207G>C	XP_011534500.1:p.Lys69Asn
XR_942606.1:n.418G>C
XM_006715586.3:c.207G>C	XP_006715649.1:p.Lys69Asn
XM_011536196.3:c.396G>C	XP_011534498.1:p.Lys132Asn
XM_011536198.3:c.207G>C	XP_011534500.1:p.Lys69Asn
XM_024446573.1:c.417G>C	XP_024302341.1:p.Lys139Asn
XR_001743697.2:n.498G>C
XR_942606.2:n.549G>C
NM_032861.4:c.417G>C MANE Select	NP_116250.3:p.Lys139Asn
NR_073096.2:n.541G>C