Canonical Allele Identifier: CA150915259
Gene: SERAC1 HGNC NCBI

Linked Data

dbSNP Id: rs75030376

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.158114966G>A , CM000668.2:g.158114966G>A GRCh38
NC_000006.11:g.158535998G>A , CM000668.1:g.158535998G>A GRCh37
NC_000006.10:g.158455986G>A NCBI36
NG_032889.1:g.58315C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435180.6:c.719C>T ENSP00000391168.2:n.719C>T
ENST00000607071.6:c.*1227C>T ENSP00000475855.1:n.*1227C>T
ENST00000642244.1:c.1417C>T ENSP00000493554.1:p.Leu473Phe
ENST00000642903.1:c.1507C>T ENSP00000493559.1:p.Leu503Phe
ENST00000644972.1:c.1507C>T ENSP00000496451.1:p.Leu503Phe
ENST00000645077.1:c.*1128C>T ENSP00000496113.1:n.*1128C>T
ENST00000645172.1:c.*1209C>T ENSP00000495367.1:n.*1209C>T
ENST00000646190.1:n.2838C>T
ENST00000646208.1:c.1243C>T ENSP00000493723.1:p.Leu415Phe
ENST00000646410.1:c.1378C>T ENSP00000494205.1:p.Leu460Phe
ENST00000646562.1:c.*1341C>T ENSP00000496087.1:n.*1341C>T
ENST00000647468.2:c.1507C>T MANE Select ENSP00000496731.1:p.Leu503Phe
ENST00000648111.1:c.*1195C>T ENSP00000497275.1:n.*1195C>T
ENST00000367101.5:c.1551C>T ENSP00000356068.1:p.Phe517=
ENST00000367104.7:c.1507C>T ENSP00000356071.3:p.Leu503Phe
ENST00000435180.5:c.232C>T ENSP00000391168.1:p.Leu78Phe
ENST00000606965.5:c.*68C>T ENSP00000475808.1:n.*68C>T
ENST00000607071.5:c.*1441C>T ENSP00000475855.1:n.*1441C>T
ENST00000607742.5:c.*2785C>T ENSP00000475523.1:n.*2785C>T
NM_032861.3:c.1507C>T NP_116250.3:p.Leu503Phe
NR_073096.1:n.1440C>T
XM_006715586.1:c.1297C>T XP_006715649.1:p.Leu433Phe
XM_011536196.1:c.1486C>T XP_011534498.1:p.Leu496Phe
XM_011536197.1:c.1393C>T XP_011534499.1:p.Leu465Phe
XM_011536198.1:c.1297C>T XP_011534500.1:p.Leu433Phe
XM_006715586.3:c.1297C>T XP_006715649.1:p.Leu433Phe
XM_011536196.3:c.1486C>T XP_011534498.1:p.Leu496Phe
XM_011536198.3:c.1297C>T XP_011534500.1:p.Leu433Phe
XM_024446573.1:c.1507C>T XP_024302341.1:p.Leu503Phe
XR_001743697.2:n.1538C>T
XR_942606.2:n.1589C>T
NM_032861.4:c.1507C>T MANE Select NP_116250.3:p.Leu503Phe
NR_073096.2:n.1422C>T