Canonical Allele Identifier: CA452822169

Gene: SERAC1

Linked Data

• dbSNP Id: rs747583218
• gnomAD v4: 6-158146861-G-A
• COSMIC: COSM292226
• MyVariant Identifiers: chr6:g.158567893G>A (hg19) ; chr6:g.158146861G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158146861G>A , CM000668.2:g.158146861G>A	GRCh38
NC_000006.11:g.158567893G>A , CM000668.1:g.158567893G>A	GRCh37
NC_000006.10:g.158487881G>A	NCBI36
NG_032889.1:g.26420C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*242C>T	ENSP00000475855.1:n.*242C>T
ENST00000642244.1:c.318C>T	ENSP00000493554.1:p.Leu106=
ENST00000642903.1:c.408C>T	ENSP00000493559.1:p.Leu136=
ENST00000644972.1:c.408C>T	ENSP00000496451.1:p.Leu136=
ENST00000645077.1:c.*242C>T	ENSP00000496113.1:n.*242C>T
ENST00000645172.1:c.*189+2004C>T	ENSP00000495367.1:n.*189+2004C>T
ENST00000646190.1:n.1639C>T
ENST00000646208.1:c.144C>T	ENSP00000493723.1:p.Leu48=
ENST00000646410.1:c.279C>T	ENSP00000494205.1:p.Leu93=
ENST00000646562.1:c.*242C>T	ENSP00000496087.1:n.*242C>T
ENST00000647468.2:c.408C>T MANE Select	ENSP00000496731.1:p.Leu136=
ENST00000648111.1:c.*52C>T	ENSP00000497275.1:n.*52C>T
ENST00000367101.5:c.408C>T	ENSP00000356068.1:p.Leu136=
ENST00000367104.7:c.408C>T	ENSP00000356071.3:p.Leu136=
ENST00000606965.5:c.408C>T	ENSP00000475808.1:p.Leu136=
ENST00000607000.1:c.408C>T	ENSP00000475788.1:p.Leu136=
ENST00000607071.5:c.*242C>T	ENSP00000475855.1:n.*242C>T
ENST00000607742.5:c.*242C>T	ENSP00000475523.1:n.*242C>T
NM_032861.3:c.408C>T	NP_116250.3:p.Leu136=
NR_073096.1:n.550C>T
XM_006715586.1:c.198C>T	XP_006715649.1:p.Leu66=
XM_011536196.1:c.387C>T	XP_011534498.1:p.Leu129=
XM_011536197.1:c.408C>T	XP_011534499.1:p.Leu136=
XM_011536198.1:c.198C>T	XP_011534500.1:p.Leu66=
XR_942606.1:n.409C>T
XM_006715586.3:c.198C>T	XP_006715649.1:p.Leu66=
XM_011536196.3:c.387C>T	XP_011534498.1:p.Leu129=
XM_011536198.3:c.198C>T	XP_011534500.1:p.Leu66=
XM_024446573.1:c.408C>T	XP_024302341.1:p.Leu136=
XR_001743697.2:n.489C>T
XR_942606.2:n.540C>T
NM_032861.4:c.408C>T MANE Select	NP_116250.3:p.Leu136=
NR_073096.2:n.532C>T