Canonical Allele Identifier: CA4071355

Gene: SERAC1

Linked Data

• dbSNP Id: rs772743170
• ExAC: 6:158567828 G / A
• gnomAD v4: 6-158146796-G-A
• MyVariant Identifiers: chr6:g.158567828G>A (hg19) ; chr6:g.158146796G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158146796G>A , CM000668.2:g.158146796G>A	GRCh38
NC_000006.11:g.158567828G>A , CM000668.1:g.158567828G>A	GRCh37
NC_000006.10:g.158487816G>A	NCBI36
NG_032889.1:g.26485C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*307C>T	ENSP00000475855.1:n.*307C>T
ENST00000642244.1:c.383C>T	ENSP00000493554.1:p.Thr128Ile
ENST00000642903.1:c.473C>T	ENSP00000493559.1:p.Thr158Ile
ENST00000644972.1:c.473C>T	ENSP00000496451.1:p.Thr158Ile
ENST00000645077.1:c.*307C>T	ENSP00000496113.1:n.*307C>T
ENST00000645172.1:c.*189+2069C>T	ENSP00000495367.1:n.*189+2069C>T
ENST00000646190.1:n.1704C>T
ENST00000646208.1:c.209C>T	ENSP00000493723.1:p.Thr70Ile
ENST00000646410.1:c.344C>T	ENSP00000494205.1:p.Thr115Ile
ENST00000646562.1:c.*307C>T	ENSP00000496087.1:n.*307C>T
ENST00000647468.2:c.473C>T MANE Select	ENSP00000496731.1:p.Thr158Ile
ENST00000648111.1:c.*117C>T	ENSP00000497275.1:n.*117C>T
ENST00000367101.5:c.473C>T	ENSP00000356068.1:p.Thr158Ile
ENST00000367104.7:c.473C>T	ENSP00000356071.3:p.Thr158Ile
ENST00000606965.5:c.473C>T	ENSP00000475808.1:p.Thr158Ile
ENST00000607000.1:c.473C>T	ENSP00000475788.1:p.Thr158Ile
ENST00000607071.5:c.*307C>T	ENSP00000475855.1:n.*307C>T
ENST00000607742.5:c.*307C>T	ENSP00000475523.1:n.*307C>T
NM_032861.3:c.473C>T	NP_116250.3:p.Thr158Ile
NR_073096.1:n.615C>T
XM_006715586.1:c.263C>T	XP_006715649.1:p.Thr88Ile
XM_011536196.1:c.452C>T	XP_011534498.1:p.Thr151Ile
XM_011536197.1:c.473C>T	XP_011534499.1:p.Thr158Ile
XM_011536198.1:c.263C>T	XP_011534500.1:p.Thr88Ile
XR_942606.1:n.474C>T
XM_006715586.3:c.263C>T	XP_006715649.1:p.Thr88Ile
XM_011536196.3:c.452C>T	XP_011534498.1:p.Thr151Ile
XM_011536198.3:c.263C>T	XP_011534500.1:p.Thr88Ile
XM_024446573.1:c.473C>T	XP_024302341.1:p.Thr158Ile
XR_001743697.2:n.554C>T
XR_942606.2:n.605C>T
NM_032861.4:c.473C>T MANE Select	NP_116250.3:p.Thr158Ile
NR_073096.2:n.597C>T