Canonical Allele Identifier: CA114853
Gene: SEC23B HGNC NCBI

Linked Data

ClinVar Variation Id: 1226
dbSNP Id: rs121918225

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.18526508C>T , CM000682.2:g.18526508C>T GRCh38
NC_000020.10:g.18507152C>T , CM000682.1:g.18507152C>T GRCh37
NC_000020.9:g.18455152C>T NCBI36
NG_016281.1:g.23965C>T
NG_016281.2:g.24027C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000336714.8:c.970C>T ENSP00000338844.3:p.Arg324Ter
ENST00000377465.6:c.970C>T ENSP00000366685.1:p.Arg324Ter
ENST00000450074.6:c.970C>T ENSP00000403971.1:p.Arg324Ter
ENST00000643747.1:c.916C>T ENSP00000496460.1:p.Arg306Ter
ENST00000650089.1:c.970C>T MANE Select ENSP00000497473.1:p.Arg324Ter
ENST00000262544.6:c.970C>T ENSP00000262544.2:p.Arg324Ter
ENST00000336714.7:c.970C>T ENSP00000338844.3:p.Arg324Ter
ENST00000377465.5:c.970C>T ENSP00000366685.1:p.Arg324Ter
ENST00000377475.7:c.970C>T ENSP00000366695.3:p.Arg324Ter
ENST00000450074.5:c.970C>T ENSP00000403971.1:p.Arg324Ter
NM_001172745.1:c.970C>T NP_001166216.1:p.Arg324Ter
NM_001172746.1:c.916C>T NP_001166217.1:p.Arg306Ter
NM_006363.4:c.970C>T NP_006354.2:p.Arg324Ter
NM_032985.4:c.970C>T NP_116780.1:p.Arg324Ter
NM_032986.3:c.970C>T NP_116781.1:p.Arg324Ter
NM_001172745.2:c.970C>T NP_001166216.1:p.Arg324Ter
NM_001172746.2:c.916C>T NP_001166217.1:p.Arg306Ter
NM_006363.6:c.970C>T MANE Select NP_006354.2:p.Arg324Ter
NM_032985.5:c.970C>T NP_116780.1:p.Arg324Ter
NM_032986.4:c.970C>T NP_116781.1:p.Arg324Ter
XM_017027593.1:c.970C>T XP_016883082.1:p.Arg324Ter
NM_001172745.3:c.970C>T NP_001166216.1:p.Arg324Ter
NM_001172746.3:c.916C>T NP_001166217.1:p.Arg306Ter
NM_032985.6:c.970C>T NP_116780.1:p.Arg324Ter
NM_032986.5:c.970C>T NP_116781.1:p.Arg324Ter