Canonical Allele Identifier: CA366255290

Gene: SERAC1

Linked Data

• gnomAD v4: 6-158114965-A-G
• MyVariant Identifiers: chr6:g.158535997A>G (hg19) ; chr6:g.158114965A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114965A>G , CM000668.2:g.158114965A>G	GRCh38
NC_000006.11:g.158535997A>G , CM000668.1:g.158535997A>G	GRCh37
NC_000006.10:g.158455985A>G	NCBI36
NG_032889.1:g.58316T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435180.6:c.720T>C	ENSP00000391168.2:n.720T>C
ENST00000607071.6:c.*1228T>C	ENSP00000475855.1:n.*1228T>C
ENST00000642244.1:c.1418T>C	ENSP00000493554.1:p.Leu473Pro
ENST00000642903.1:c.1508T>C	ENSP00000493559.1:p.Leu503Pro
ENST00000644972.1:c.1508T>C	ENSP00000496451.1:p.Leu503Pro
ENST00000645077.1:c.*1129T>C	ENSP00000496113.1:n.*1129T>C
ENST00000645172.1:c.*1210T>C	ENSP00000495367.1:n.*1210T>C
ENST00000646190.1:n.2839T>C
ENST00000646208.1:c.1244T>C	ENSP00000493723.1:p.Leu415Pro
ENST00000646410.1:c.1379T>C	ENSP00000494205.1:p.Leu460Pro
ENST00000646562.1:c.*1342T>C	ENSP00000496087.1:n.*1342T>C
ENST00000647468.2:c.1508T>C MANE Select	ENSP00000496731.1:p.Leu503Pro
ENST00000648111.1:c.*1196T>C	ENSP00000497275.1:n.*1196T>C
ENST00000367101.5:c.1552T>C	ENSP00000356068.1:p.Leu518=
ENST00000367104.7:c.1508T>C	ENSP00000356071.3:p.Leu503Pro
ENST00000435180.5:c.233T>C	ENSP00000391168.1:p.Leu78Pro
ENST00000606965.5:c.*69T>C	ENSP00000475808.1:n.*69T>C
ENST00000607071.5:c.*1442T>C	ENSP00000475855.1:n.*1442T>C
ENST00000607742.5:c.*2786T>C	ENSP00000475523.1:n.*2786T>C
NM_032861.3:c.1508T>C	NP_116250.3:p.Leu503Pro
NR_073096.1:n.1441T>C
XM_006715586.1:c.1298T>C	XP_006715649.1:p.Leu433Pro
XM_011536196.1:c.1487T>C	XP_011534498.1:p.Leu496Pro
XM_011536197.1:c.1394T>C	XP_011534499.1:p.Leu465Pro
XM_011536198.1:c.1298T>C	XP_011534500.1:p.Leu433Pro
XM_006715586.3:c.1298T>C	XP_006715649.1:p.Leu433Pro
XM_011536196.3:c.1487T>C	XP_011534498.1:p.Leu496Pro
XM_011536198.3:c.1298T>C	XP_011534500.1:p.Leu433Pro
XM_024446573.1:c.1508T>C	XP_024302341.1:p.Leu503Pro
XR_001743697.2:n.1539T>C
XR_942606.2:n.1590T>C
NM_032861.4:c.1508T>C MANE Select	NP_116250.3:p.Leu503Pro
NR_073096.2:n.1423T>C