Canonical Allele Identifier: CA9778160

Gene: SEC23B

Linked Data

• ClinVar Variation Id: 2921182
• ClinVar RCV Id: RCV003740607 ; RCV003779382
• dbSNP Id: rs760457633
• ExAC: 20:18507055 T / C
• gnomAD v2: 20-18507055-T-C
• gnomAD v3: 20-18526411-T-C
• gnomAD v4: 20-18526411-T-C
• MyVariant Identifiers: chr20:g.18507055T>C (hg19) ; chr20:g.18526411T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.18526411T>C , CM000682.2:g.18526411T>C	GRCh38
NC_000020.10:g.18507055T>C , CM000682.1:g.18507055T>C	GRCh37
NC_000020.9:g.18455055T>C	NCBI36
NG_016281.1:g.23868T>C
NG_016281.2:g.23930T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000336714.8:c.873T>C	ENSP00000338844.3:p.Phe291=
ENST00000377465.6:c.873T>C	ENSP00000366685.1:p.Phe291=
ENST00000450074.6:c.873T>C	ENSP00000403971.1:p.Phe291=
ENST00000643747.1:c.819T>C	ENSP00000496460.1:p.Phe273=
ENST00000650089.1:c.873T>C MANE Select	ENSP00000497473.1:p.Phe291=
ENST00000262544.6:c.873T>C	ENSP00000262544.2:p.Phe291=
ENST00000336714.7:c.873T>C	ENSP00000338844.3:p.Phe291=
ENST00000377465.5:c.873T>C	ENSP00000366685.1:p.Phe291=
ENST00000377475.7:c.873T>C	ENSP00000366695.3:p.Phe291=
ENST00000450074.5:c.873T>C	ENSP00000403971.1:p.Phe291=
NM_001172745.1:c.873T>C	NP_001166216.1:p.Phe291=
NM_001172746.1:c.819T>C	NP_001166217.1:p.Phe273=
NM_006363.4:c.873T>C	NP_006354.2:p.Phe291=
NM_032985.4:c.873T>C	NP_116780.1:p.Phe291=
NM_032986.3:c.873T>C	NP_116781.1:p.Phe291=
NM_001172745.2:c.873T>C	NP_001166216.1:p.Phe291=
NM_001172746.2:c.819T>C	NP_001166217.1:p.Phe273=
NM_006363.6:c.873T>C MANE Select	NP_006354.2:p.Phe291=
NM_032985.5:c.873T>C	NP_116780.1:p.Phe291=
NM_032986.4:c.873T>C	NP_116781.1:p.Phe291=
XM_017027593.1:c.873T>C	XP_016883082.1:p.Phe291=
NM_001172745.3:c.873T>C	NP_001166216.1:p.Phe291=
NM_001172746.3:c.819T>C	NP_001166217.1:p.Phe273=
NM_032985.6:c.873T>C	NP_116780.1:p.Phe291=
NM_032986.5:c.873T>C	NP_116781.1:p.Phe291=