Canonical Allele Identifier: CA366255017

Gene: SERAC1

Linked Data

• dbSNP Id: rs1198559961
• gnomAD v2: 6-158535884-C-A
• gnomAD v4: 6-158114852-C-A
• MyVariant Identifiers: chr6:g.158535884C>A (hg19) ; chr6:g.158114852C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114852C>A , CM000668.2:g.158114852C>A	GRCh38
NC_000006.11:g.158535884C>A , CM000668.1:g.158535884C>A	GRCh37
NC_000006.10:g.158455872C>A	NCBI36
NG_032889.1:g.58429G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435180.6:c.833G>T	ENSP00000391168.2:n.833G>T
ENST00000607071.6:c.*1341G>T	ENSP00000475855.1:n.*1341G>T
ENST00000642244.1:c.1531G>T	ENSP00000493554.1:p.Glu511Ter
ENST00000642903.1:c.1621G>T	ENSP00000493559.1:p.Glu541Ter
ENST00000644972.1:c.1621G>T	ENSP00000496451.1:p.Glu541Ter
ENST00000645077.1:c.*1242G>T	ENSP00000496113.1:n.*1242G>T
ENST00000645172.1:c.*1323G>T	ENSP00000495367.1:n.*1323G>T
ENST00000646190.1:n.2952G>T
ENST00000646208.1:c.1357G>T	ENSP00000493723.1:p.Glu453Ter
ENST00000646410.1:c.1492G>T	ENSP00000494205.1:p.Glu498Ter
ENST00000646562.1:c.*1455G>T	ENSP00000496087.1:n.*1455G>T
ENST00000647468.2:c.1621G>T MANE Select	ENSP00000496731.1:p.Glu541Ter
ENST00000648111.1:c.*1309G>T	ENSP00000497275.1:n.*1309G>T
ENST00000367101.5:c.*69G>T	ENSP00000356068.1:n.*69G>T
ENST00000367104.7:c.1621G>T	ENSP00000356071.3:p.Glu541Ter
ENST00000435180.5:c.346G>T	ENSP00000391168.1:p.Glu116Ter
ENST00000606965.5:c.*182G>T	ENSP00000475808.1:n.*182G>T
ENST00000607071.5:c.*1555G>T	ENSP00000475855.1:n.*1555G>T
ENST00000607742.5:c.*2899G>T	ENSP00000475523.1:n.*2899G>T
NM_032861.3:c.1621G>T	NP_116250.3:p.Glu541Ter
NR_073096.1:n.1554G>T
XM_006715586.1:c.1411G>T	XP_006715649.1:p.Glu471Ter
XM_011536196.1:c.1600G>T	XP_011534498.1:p.Glu534Ter
XM_011536197.1:c.1507G>T	XP_011534499.1:p.Glu503Ter
XM_011536198.1:c.1411G>T	XP_011534500.1:p.Glu471Ter
XM_006715586.3:c.1411G>T	XP_006715649.1:p.Glu471Ter
XM_011536196.3:c.1600G>T	XP_011534498.1:p.Glu534Ter
XM_011536198.3:c.1411G>T	XP_011534500.1:p.Glu471Ter
XM_024446573.1:c.1621G>T	XP_024302341.1:p.Glu541Ter
XR_001743697.2:n.1652G>T
XR_942606.2:n.1703G>T
NM_032861.4:c.1621G>T MANE Select	NP_116250.3:p.Glu541Ter
NR_073096.2:n.1536G>T