Canonical Allele Identifier: CA9778438

Gene: SEC23B

Linked Data

• ClinVar Variation Id: 2950689
• ClinVar RCV Id: RCV003809999
• dbSNP Id: rs778016282
• ExAC: 20:18523811 C / T
• gnomAD v2: 20-18523811-C-T
• gnomAD v3: 20-18543167-C-T
• gnomAD v4: 20-18543167-C-T
• COSMIC: COSM6004545
• MyVariant Identifiers: chr20:g.18523811C>T (hg19) ; chr20:g.18543167C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.18543167C>T , CM000682.2:g.18543167C>T	GRCh38
NC_000020.10:g.18523811C>T , CM000682.1:g.18523811C>T	GRCh37
NC_000020.9:g.18471811C>T	NCBI36
NG_016281.1:g.40624C>T
NG_016281.2:g.40686C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336714.8:c.1660C>T	ENSP00000338844.3:p.Arg554Ter
ENST00000377465.6:c.1660C>T	ENSP00000366685.1:p.Arg554Ter
ENST00000643747.1:c.1606C>T	ENSP00000496460.1:p.Arg536Ter
ENST00000650089.1:c.1660C>T MANE Select	ENSP00000497473.1:p.Arg554Ter
ENST00000262544.6:c.1660C>T	ENSP00000262544.2:p.Arg554Ter
ENST00000336714.7:c.1660C>T	ENSP00000338844.3:p.Arg554Ter
ENST00000377465.5:c.1660C>T	ENSP00000366685.1:p.Arg554Ter
ENST00000377475.7:c.1660C>T	ENSP00000366695.3:p.Arg554Ter
ENST00000422877.1:c.184C>T	ENSP00000409882.1:p.Arg62Ter
NM_001172745.1:c.1660C>T	NP_001166216.1:p.Arg554Ter
NM_001172746.1:c.1606C>T	NP_001166217.1:p.Arg536Ter
NM_006363.4:c.1660C>T	NP_006354.2:p.Arg554Ter
NM_032985.4:c.1660C>T	NP_116780.1:p.Arg554Ter
NM_032986.3:c.1660C>T	NP_116781.1:p.Arg554Ter
NM_001172745.2:c.1660C>T	NP_001166216.1:p.Arg554Ter
NM_001172746.2:c.1606C>T	NP_001166217.1:p.Arg536Ter
NM_006363.6:c.1660C>T MANE Select	NP_006354.2:p.Arg554Ter
NM_032985.5:c.1660C>T	NP_116780.1:p.Arg554Ter
NM_032986.4:c.1660C>T	NP_116781.1:p.Arg554Ter
XM_017027593.1:c.1660C>T	XP_016883082.1:p.Arg554Ter
NM_001172745.3:c.1660C>T	NP_001166216.1:p.Arg554Ter
NM_001172746.3:c.1606C>T	NP_001166217.1:p.Arg536Ter
NM_032985.6:c.1660C>T	NP_116780.1:p.Arg554Ter
NM_032986.5:c.1660C>T	NP_116781.1:p.Arg554Ter