Canonical Allele Identifier: CA234903

Gene: SEC23B

Linked Data

• ClinVar Variation Id: 167665
• ClinVar RCV Id: RCV000153925 ; RCV000490449 ; RCV001082004 ; RCV001335411
• dbSNP Id: rs6045440
• ExAC: 20:18491553 C / A
• gnomAD v2: 20-18491553-C-A
• gnomAD v3: 20-18510909-C-A
• gnomAD v4: 20-18510909-C-A
• MyVariant Identifiers: chr20:g.18491553C>A (hg19) ; chr20:g.18510909C>A (hg38)
• PubMed: PMID:22428539 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.18510909C>A , CM000682.2:g.18510909C>A	GRCh38
NC_000020.10:g.18491553C>A , CM000682.1:g.18491553C>A	GRCh37
NC_000020.9:g.18439553C>A	NCBI36
NG_016281.1:g.8366C>A
NG_016281.2:g.8428C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336714.8:c.74C>A	ENSP00000338844.3:p.Pro25His
ENST00000377465.6:c.74C>A	ENSP00000366685.1:p.Pro25His
ENST00000450074.6:c.74C>A	ENSP00000403971.1:p.Pro25His
ENST00000643747.1:c.74C>A	ENSP00000496460.1:p.Pro25His
ENST00000645851.1:c.74C>A	ENSP00000496507.1:p.Pro25His
ENST00000646240.1:c.74C>A	ENSP00000495008.1:p.Pro25His
ENST00000650089.1:c.74C>A MANE Select	ENSP00000497473.1:p.Pro25His
ENST00000262544.6:c.74C>A	ENSP00000262544.2:p.Pro25His
ENST00000336714.7:c.74C>A	ENSP00000338844.3:p.Pro25His
ENST00000377465.5:c.74C>A	ENSP00000366685.1:p.Pro25His
ENST00000377475.7:c.74C>A	ENSP00000366695.3:p.Pro25His
ENST00000450074.5:c.74C>A	ENSP00000403971.1:p.Pro25His
ENST00000474619.1:n.210C>A
NM_001172745.1:c.74C>A	NP_001166216.1:p.Pro25His
NM_001172746.1:c.74C>A	NP_001166217.1:p.Pro25His
NM_006363.4:c.74C>A	NP_006354.2:p.Pro25His
NM_032985.4:c.74C>A	NP_116780.1:p.Pro25His
NM_032986.3:c.74C>A	NP_116781.1:p.Pro25His
NM_001172745.2:c.74C>A	NP_001166216.1:p.Pro25His
NM_001172746.2:c.74C>A	NP_001166217.1:p.Pro25His
NM_006363.6:c.74C>A MANE Select	NP_006354.2:p.Pro25His
NM_032985.5:c.74C>A	NP_116780.1:p.Pro25His
NM_032986.4:c.74C>A	NP_116781.1:p.Pro25His
XM_017027593.1:c.74C>A	XP_016883082.1:p.Pro25His
NM_001172745.3:c.74C>A	NP_001166216.1:p.Pro25His
NM_001172746.3:c.74C>A	NP_001166217.1:p.Pro25His
NM_032985.6:c.74C>A	NP_116780.1:p.Pro25His
NM_032986.5:c.74C>A	NP_116781.1:p.Pro25His