Canonical Allele Identifier: CA658799346
Gene: SEC23B HGNC NCBI

Linked Data

ClinVar Variation Id: 532195
ClinVar RCV Id: RCV000638849
dbSNP Id: rs1555789463

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.18535747G>A , CM000682.2:g.18535747G>A GRCh38
NC_000020.10:g.18516391G>A , CM000682.1:g.18516391G>A GRCh37
NC_000020.9:g.18464391G>A NCBI36
NG_016281.1:g.33204G>A
NG_016281.2:g.33266G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336714.8:c.1404+5G>A ENSP00000338844.3:n.1404+5G>A
ENST00000377465.6:c.1404+5G>A ENSP00000366685.1:n.1404+5G>A
ENST00000643747.1:c.1350+5G>A ENSP00000496460.1:n.1350+5G>A
ENST00000650089.1:c.1404+5G>A MANE Select ENSP00000497473.1:n.1404+5G>A
ENST00000262544.6:c.1404+5G>A ENSP00000262544.2:n.1404+5G>A
ENST00000336714.7:c.1404+5G>A ENSP00000338844.3:n.1404+5G>A
ENST00000377465.5:c.1404+5G>A ENSP00000366685.1:n.1404+5G>A
ENST00000377475.7:c.1404+5G>A ENSP00000366695.3:n.1404+5G>A
NM_001172745.1:c.1404+5G>A NP_001166216.1:n.1404+5G>A
NM_001172746.1:c.1350+5G>A NP_001166217.1:n.1350+5G>A
NM_006363.4:c.1404+5G>A NP_006354.2:n.1404+5G>A
NM_032985.4:c.1404+5G>A NP_116780.1:n.1404+5G>A
NM_032986.3:c.1404+5G>A NP_116781.1:n.1404+5G>A
NM_001172745.2:c.1404+5G>A NP_001166216.1:n.1404+5G>A
NM_001172746.2:c.1350+5G>A NP_001166217.1:n.1350+5G>A
NM_006363.6:c.1404+5G>A MANE Select NP_006354.2:n.1404+5G>A
NM_032985.5:c.1404+5G>A NP_116780.1:n.1404+5G>A
NM_032986.4:c.1404+5G>A NP_116781.1:n.1404+5G>A
XM_017027593.1:c.1404+5G>A XP_016883082.1:n.1404+5G>A
NM_001172745.3:c.1404+5G>A NP_001166216.1:n.1404+5G>A
NM_001172746.3:c.1350+5G>A NP_001166217.1:n.1350+5G>A
NM_032985.6:c.1404+5G>A NP_116780.1:n.1404+5G>A
NM_032986.5:c.1404+5G>A NP_116781.1:n.1404+5G>A