Canonical Allele Identifier: CA222943

Gene: SEC23B

Linked Data

• ClinVar Variation Id: 95389
• ClinVar RCV Id: RCV000081409 ; RCV000689848 ; RCV001195899 ; RCV002288579
• dbSNP Id: rs398124226
• ExAC: 20:18505665 G / A
• gnomAD v2: 20-18505665-G-A
• gnomAD v3: 20-18525021-G-A
• gnomAD v4: 20-18525021-G-A
• MyVariant Identifiers: chr20:g.18505665G>A (hg19) ; chr20:g.18525021G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.18525021G>A , CM000682.2:g.18525021G>A	GRCh38
NC_000020.10:g.18505665G>A , CM000682.1:g.18505665G>A	GRCh37
NC_000020.9:g.18453665G>A	NCBI36
NG_016281.1:g.22478G>A
NG_016281.2:g.22540G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336714.8:c.689+1G>A	ENSP00000338844.3:n.689+1G>A
ENST00000377465.6:c.689+1G>A	ENSP00000366685.1:n.689+1G>A
ENST00000450074.6:c.689+1G>A	ENSP00000403971.1:n.689+1G>A
ENST00000643747.1:c.635+1G>A	ENSP00000496460.1:n.635+1G>A
ENST00000650089.1:c.689+1G>A MANE Select	ENSP00000497473.1:n.689+1G>A
ENST00000262544.6:c.689+1G>A	ENSP00000262544.2:n.689+1G>A
ENST00000336714.7:c.689+1G>A	ENSP00000338844.3:n.689+1G>A
ENST00000377465.5:c.689+1G>A	ENSP00000366685.1:n.689+1G>A
ENST00000377475.7:c.689+1G>A	ENSP00000366695.3:n.689+1G>A
ENST00000450074.5:c.689+1G>A	ENSP00000403971.1:n.689+1G>A
NM_001172745.1:c.689+1G>A	NP_001166216.1:n.689+1G>A
NM_001172746.1:c.635+1G>A	NP_001166217.1:n.635+1G>A
NM_006363.4:c.689+1G>A	NP_006354.2:n.689+1G>A
NM_032985.4:c.689+1G>A	NP_116780.1:n.689+1G>A
NM_032986.3:c.689+1G>A	NP_116781.1:n.689+1G>A
NM_001172745.2:c.689+1G>A	NP_001166216.1:n.689+1G>A
NM_001172746.2:c.635+1G>A	NP_001166217.1:n.635+1G>A
NM_006363.6:c.689+1G>A MANE Select	NP_006354.2:n.689+1G>A
NM_032985.5:c.689+1G>A	NP_116780.1:n.689+1G>A
NM_032986.4:c.689+1G>A	NP_116781.1:n.689+1G>A
XM_017027593.1:c.689+1G>A	XP_016883082.1:n.689+1G>A
NM_001172745.3:c.689+1G>A	NP_001166216.1:n.689+1G>A
NM_001172746.3:c.635+1G>A	NP_001166217.1:n.635+1G>A
NM_032985.6:c.689+1G>A	NP_116780.1:n.689+1G>A
NM_032986.5:c.689+1G>A	NP_116781.1:n.689+1G>A