Canonical Allele Identifier: CA4071006

Gene: SERAC1

Linked Data

• dbSNP Id: rs758075579
• ExAC: 6:158535836 T / C
• gnomAD v2: 6-158535836-T-C
• gnomAD v4: 6-158114804-T-C
• MyVariant Identifiers: chr6:g.158535836T>C (hg19) ; chr6:g.158114804T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114804T>C , CM000668.2:g.158114804T>C	GRCh38
NC_000006.11:g.158535836T>C , CM000668.1:g.158535836T>C	GRCh37
NC_000006.10:g.158455824T>C	NCBI36
NG_032889.1:g.58477A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000607071.6:c.*1389A>G	ENSP00000475855.1:n.*1389A>G
ENST00000642244.1:c.1579A>G	ENSP00000493554.1:p.Lys527Glu
ENST00000642903.1:c.1669A>G	ENSP00000493559.1:p.Lys557Glu
ENST00000644972.1:c.1669A>G	ENSP00000496451.1:p.Lys557Glu
ENST00000645077.1:c.*1290A>G	ENSP00000496113.1:n.*1290A>G
ENST00000645172.1:c.*1371A>G	ENSP00000495367.1:n.*1371A>G
ENST00000646190.1:n.3000A>G
ENST00000646208.1:c.1405A>G	ENSP00000493723.1:p.Lys469Glu
ENST00000646410.1:c.1540A>G	ENSP00000494205.1:p.Lys514Glu
ENST00000646562.1:c.*1503A>G	ENSP00000496087.1:n.*1503A>G
ENST00000647468.2:c.1669A>G MANE Select	ENSP00000496731.1:p.Lys557Glu
ENST00000648111.1:c.*1357A>G	ENSP00000497275.1:n.*1357A>G
ENST00000367101.5:c.*117A>G	ENSP00000356068.1:n.*117A>G
ENST00000367104.7:c.1669A>G	ENSP00000356071.3:p.Lys557Glu
ENST00000435180.5:c.394A>G	ENSP00000391168.1:p.Lys132Glu
ENST00000606965.5:c.*230A>G	ENSP00000475808.1:n.*230A>G
ENST00000607071.5:c.*1603A>G	ENSP00000475855.1:n.*1603A>G
ENST00000607742.5:c.*2947A>G	ENSP00000475523.1:n.*2947A>G
NM_032861.3:c.1669A>G	NP_116250.3:p.Lys557Glu
NR_073096.1:n.1602A>G
XM_006715586.1:c.1459A>G	XP_006715649.1:p.Lys487Glu
XM_011536196.1:c.1648A>G	XP_011534498.1:p.Lys550Glu
XM_011536197.1:c.1555A>G	XP_011534499.1:p.Lys519Glu
XM_011536198.1:c.1459A>G	XP_011534500.1:p.Lys487Glu
XM_006715586.3:c.1459A>G	XP_006715649.1:p.Lys487Glu
XM_011536196.3:c.1648A>G	XP_011534498.1:p.Lys550Glu
XM_011536198.3:c.1459A>G	XP_011534500.1:p.Lys487Glu
XM_024446573.1:c.1669A>G	XP_024302341.1:p.Lys557Glu
XR_001743697.2:n.1700A>G
XR_942606.2:n.1751A>G
NM_032861.4:c.1669A>G MANE Select	NP_116250.3:p.Lys557Glu
NR_073096.2:n.1584A>G