Canonical Allele Identifier: CA4071012

Gene: SERAC1

Linked Data

• dbSNP Id: rs745987275
• ExAC: 6:158535864 G / A
• gnomAD v2: 6-158535864-G-A
• gnomAD v4: 6-158114832-G-A
• MyVariant Identifiers: chr6:g.158535864G>A (hg19) ; chr6:g.158114832G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114832G>A , CM000668.2:g.158114832G>A	GRCh38
NC_000006.11:g.158535864G>A , CM000668.1:g.158535864G>A	GRCh37
NC_000006.10:g.158455852G>A	NCBI36
NG_032889.1:g.58449C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435180.6:c.853C>T	ENSP00000391168.2:n.853C>T
ENST00000607071.6:c.*1361C>T	ENSP00000475855.1:n.*1361C>T
ENST00000642244.1:c.1551C>T	ENSP00000493554.1:p.Arg517=
ENST00000642903.1:c.1641C>T	ENSP00000493559.1:p.Arg547=
ENST00000644972.1:c.1641C>T	ENSP00000496451.1:p.Arg547=
ENST00000645077.1:c.*1262C>T	ENSP00000496113.1:n.*1262C>T
ENST00000645172.1:c.*1343C>T	ENSP00000495367.1:n.*1343C>T
ENST00000646190.1:n.2972C>T
ENST00000646208.1:c.1377C>T	ENSP00000493723.1:p.Arg459=
ENST00000646410.1:c.1512C>T	ENSP00000494205.1:p.Arg504=
ENST00000646562.1:c.*1475C>T	ENSP00000496087.1:n.*1475C>T
ENST00000647468.2:c.1641C>T MANE Select	ENSP00000496731.1:p.Arg547=
ENST00000648111.1:c.*1329C>T	ENSP00000497275.1:n.*1329C>T
ENST00000367101.5:c.*89C>T	ENSP00000356068.1:n.*89C>T
ENST00000367104.7:c.1641C>T	ENSP00000356071.3:p.Arg547=
ENST00000435180.5:c.366C>T	ENSP00000391168.1:p.Arg122=
ENST00000606965.5:c.*202C>T	ENSP00000475808.1:n.*202C>T
ENST00000607071.5:c.*1575C>T	ENSP00000475855.1:n.*1575C>T
ENST00000607742.5:c.*2919C>T	ENSP00000475523.1:n.*2919C>T
NM_032861.3:c.1641C>T	NP_116250.3:p.Arg547=
NR_073096.1:n.1574C>T
XM_006715586.1:c.1431C>T	XP_006715649.1:p.Arg477=
XM_011536196.1:c.1620C>T	XP_011534498.1:p.Arg540=
XM_011536197.1:c.1527C>T	XP_011534499.1:p.Arg509=
XM_011536198.1:c.1431C>T	XP_011534500.1:p.Arg477=
XM_006715586.3:c.1431C>T	XP_006715649.1:p.Arg477=
XM_011536196.3:c.1620C>T	XP_011534498.1:p.Arg540=
XM_011536198.3:c.1431C>T	XP_011534500.1:p.Arg477=
XM_024446573.1:c.1641C>T	XP_024302341.1:p.Arg547=
XR_001743697.2:n.1672C>T
XR_942606.2:n.1723C>T
NM_032861.4:c.1641C>T MANE Select	NP_116250.3:p.Arg547=
NR_073096.2:n.1556C>T