Canonical Allele Identifier: CA408364105

Gene: SEC23B

Linked Data

• gnomAD v4: 20-18543096-G-C
• MyVariant Identifiers: chr20:g.18523740G>C (hg19) ; chr20:g.18543096G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.18543096G>C , CM000682.2:g.18543096G>C	GRCh38
NC_000020.10:g.18523740G>C , CM000682.1:g.18523740G>C	GRCh37
NC_000020.9:g.18471740G>C	NCBI36
NG_016281.1:g.40553G>C
NG_016281.2:g.40615G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000336714.8:c.1589G>C	ENSP00000338844.3:p.Arg530Pro
ENST00000377465.6:c.1589G>C	ENSP00000366685.1:p.Arg530Pro
ENST00000643747.1:c.1535G>C	ENSP00000496460.1:p.Arg512Pro
ENST00000650089.1:c.1589G>C MANE Select	ENSP00000497473.1:p.Arg530Pro
ENST00000262544.6:c.1589G>C	ENSP00000262544.2:p.Arg530Pro
ENST00000336714.7:c.1589G>C	ENSP00000338844.3:p.Arg530Pro
ENST00000377465.5:c.1589G>C	ENSP00000366685.1:p.Arg530Pro
ENST00000377475.7:c.1589G>C	ENSP00000366695.3:p.Arg530Pro
ENST00000422877.1:c.113G>C	ENSP00000409882.1:p.Arg38Pro
NM_001172745.1:c.1589G>C	NP_001166216.1:p.Arg530Pro
NM_001172746.1:c.1535G>C	NP_001166217.1:p.Arg512Pro
NM_006363.4:c.1589G>C	NP_006354.2:p.Arg530Pro
NM_032985.4:c.1589G>C	NP_116780.1:p.Arg530Pro
NM_032986.3:c.1589G>C	NP_116781.1:p.Arg530Pro
NM_001172745.2:c.1589G>C	NP_001166216.1:p.Arg530Pro
NM_001172746.2:c.1535G>C	NP_001166217.1:p.Arg512Pro
NM_006363.6:c.1589G>C MANE Select	NP_006354.2:p.Arg530Pro
NM_032985.5:c.1589G>C	NP_116780.1:p.Arg530Pro
NM_032986.4:c.1589G>C	NP_116781.1:p.Arg530Pro
XM_017027593.1:c.1589G>C	XP_016883082.1:p.Arg530Pro
NM_001172745.3:c.1589G>C	NP_001166216.1:p.Arg530Pro
NM_001172746.3:c.1535G>C	NP_001166217.1:p.Arg512Pro
NM_032985.6:c.1589G>C	NP_116780.1:p.Arg530Pro
NM_032986.5:c.1589G>C	NP_116781.1:p.Arg530Pro