Canonical Allele Identifier: CA408360311

Gene: SEC23B

Linked Data

• dbSNP Id: rs747541378
• gnomAD v2: 20-18507153-G-T
• gnomAD v4: 20-18526509-G-T
• MyVariant Identifiers: chr20:g.18507153G>T (hg19) ; chr20:g.18526509G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.18526509G>T , CM000682.2:g.18526509G>T	GRCh38
NC_000020.10:g.18507153G>T , CM000682.1:g.18507153G>T	GRCh37
NC_000020.9:g.18455153G>T	NCBI36
NG_016281.1:g.23966G>T
NG_016281.2:g.24028G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336714.8:c.971G>T	ENSP00000338844.3:p.Arg324Leu
ENST00000377465.6:c.971G>T	ENSP00000366685.1:p.Arg324Leu
ENST00000450074.6:c.971G>T	ENSP00000403971.1:p.Arg324Leu
ENST00000643747.1:c.917G>T	ENSP00000496460.1:p.Arg306Leu
ENST00000650089.1:c.971G>T MANE Select	ENSP00000497473.1:p.Arg324Leu
ENST00000262544.6:c.971G>T	ENSP00000262544.2:p.Arg324Leu
ENST00000336714.7:c.971G>T	ENSP00000338844.3:p.Arg324Leu
ENST00000377465.5:c.971G>T	ENSP00000366685.1:p.Arg324Leu
ENST00000377475.7:c.971G>T	ENSP00000366695.3:p.Arg324Leu
ENST00000450074.5:c.971G>T	ENSP00000403971.1:p.Arg324Leu
NM_001172745.1:c.971G>T	NP_001166216.1:p.Arg324Leu
NM_001172746.1:c.917G>T	NP_001166217.1:p.Arg306Leu
NM_006363.4:c.971G>T	NP_006354.2:p.Arg324Leu
NM_032985.4:c.971G>T	NP_116780.1:p.Arg324Leu
NM_032986.3:c.971G>T	NP_116781.1:p.Arg324Leu
NM_001172745.2:c.971G>T	NP_001166216.1:p.Arg324Leu
NM_001172746.2:c.917G>T	NP_001166217.1:p.Arg306Leu
NM_006363.6:c.971G>T MANE Select	NP_006354.2:p.Arg324Leu
NM_032985.5:c.971G>T	NP_116780.1:p.Arg324Leu
NM_032986.4:c.971G>T	NP_116781.1:p.Arg324Leu
XM_017027593.1:c.971G>T	XP_016883082.1:p.Arg324Leu
NM_001172745.3:c.971G>T	NP_001166216.1:p.Arg324Leu
NM_001172746.3:c.917G>T	NP_001166217.1:p.Arg306Leu
NM_032985.6:c.971G>T	NP_116780.1:p.Arg324Leu
NM_032986.5:c.971G>T	NP_116781.1:p.Arg324Leu