Canonical Allele Identifier: CA9778321
Gene: SEC23B HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.18535673G>A
GRCh37 chr20:g.18516317G>A
gnomAD v2:
20:18516317 G / A
gnomAD v3:
20:18535673 G / A
gnomAD v4:
chr20-18535673-G-A
Joint Max Group AF 0.00021968 (AFR)
Genomes Max Group AF 0.00024088 (AFR)
Exomes Max Group AF 0.00017291 (NFE)
ClinVar Allele:
344715
ClinVar RCV:
RCV000282343
RCV000890287
RCV001532448
ClinVar Variation:
337795
dbSNP:
146587686
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.18535673G>A , CM000682.2:g.18535673G>A GRCh38
NC_000020.10:g.18516317G>A , CM000682.1:g.18516317G>A GRCh37
NC_000020.9:g.18464317G>A NCBI36
NG_016281.1:g.33130G>A
NG_016281.2:g.33192G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336714.8:c.1335G>A ENSP00000338844.3:p.Thr445=
ENST00000377465.6:c.1335G>A ENSP00000366685.1:p.Thr445=
ENST00000643747.1:c.1281G>A ENSP00000496460.1:p.Thr427=
ENST00000650089.1:c.1335G>A MANE Select ENSP00000497473.1:p.Thr445=
ENST00000262544.6:c.1335G>A ENSP00000262544.2:p.Thr445=
ENST00000336714.7:c.1335G>A ENSP00000338844.3:p.Thr445=
ENST00000377465.5:c.1335G>A ENSP00000366685.1:p.Thr445=
ENST00000377475.7:c.1335G>A ENSP00000366695.3:p.Thr445=
NM_001172745.1:c.1335G>A NP_001166216.1:p.Thr445=
NM_001172746.1:c.1281G>A NP_001166217.1:p.Thr427=
NM_006363.4:c.1335G>A NP_006354.2:p.Thr445=
NM_032985.4:c.1335G>A NP_116780.1:p.Thr445=
NM_032986.3:c.1335G>A NP_116781.1:p.Thr445=
NM_001172745.2:c.1335G>A NP_001166216.1:p.Thr445=
NM_001172746.2:c.1281G>A NP_001166217.1:p.Thr427=
NM_006363.6:c.1335G>A MANE Select NP_006354.2:p.Thr445=
NM_032985.5:c.1335G>A NP_116780.1:p.Thr445=
NM_032986.4:c.1335G>A NP_116781.1:p.Thr445=
XM_017027593.1:c.1335G>A XP_016883082.1:p.Thr445=
NM_001172745.3:c.1335G>A NP_001166216.1:p.Thr445=
NM_001172746.3:c.1281G>A NP_001166217.1:p.Thr427=
NM_032985.6:c.1335G>A NP_116780.1:p.Thr445=
NM_032986.5:c.1335G>A NP_116781.1:p.Thr445=
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