Canonical Allele Identifier: CA408360158

Gene: SEC23B

Linked Data

• ClinVar Variation Id: 3064761
• ClinVar RCV Id: RCV003989246
• dbSNP Id: rs2060134596
• MyVariant Identifiers: chr20:g.18507084G>A (hg19) ; chr20:g.18526440G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.18526440G>A , CM000682.2:g.18526440G>A	GRCh38
NC_000020.10:g.18507084G>A , CM000682.1:g.18507084G>A	GRCh37
NC_000020.9:g.18455084G>A	NCBI36
NG_016281.1:g.23897G>A
NG_016281.2:g.23959G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336714.8:c.902G>A	ENSP00000338844.3:p.Gly301Asp
ENST00000377465.6:c.902G>A	ENSP00000366685.1:p.Gly301Asp
ENST00000450074.6:c.902G>A	ENSP00000403971.1:p.Gly301Asp
ENST00000643747.1:c.848G>A	ENSP00000496460.1:p.Gly283Asp
ENST00000650089.1:c.902G>A MANE Select	ENSP00000497473.1:p.Gly301Asp
ENST00000262544.6:c.902G>A	ENSP00000262544.2:p.Gly301Asp
ENST00000336714.7:c.902G>A	ENSP00000338844.3:p.Gly301Asp
ENST00000377465.5:c.902G>A	ENSP00000366685.1:p.Gly301Asp
ENST00000377475.7:c.902G>A	ENSP00000366695.3:p.Gly301Asp
ENST00000450074.5:c.902G>A	ENSP00000403971.1:p.Gly301Asp
NM_001172745.1:c.902G>A	NP_001166216.1:p.Gly301Asp
NM_001172746.1:c.848G>A	NP_001166217.1:p.Gly283Asp
NM_006363.4:c.902G>A	NP_006354.2:p.Gly301Asp
NM_032985.4:c.902G>A	NP_116780.1:p.Gly301Asp
NM_032986.3:c.902G>A	NP_116781.1:p.Gly301Asp
NM_001172745.2:c.902G>A	NP_001166216.1:p.Gly301Asp
NM_001172746.2:c.848G>A	NP_001166217.1:p.Gly283Asp
NM_006363.6:c.902G>A MANE Select	NP_006354.2:p.Gly301Asp
NM_032985.5:c.902G>A	NP_116780.1:p.Gly301Asp
NM_032986.4:c.902G>A	NP_116781.1:p.Gly301Asp
XM_017027593.1:c.902G>A	XP_016883082.1:p.Gly301Asp
NM_001172745.3:c.902G>A	NP_001166216.1:p.Gly301Asp
NM_001172746.3:c.848G>A	NP_001166217.1:p.Gly283Asp
NM_032985.6:c.902G>A	NP_116780.1:p.Gly301Asp
NM_032986.5:c.902G>A	NP_116781.1:p.Gly301Asp