Canonical Allele Identifier: CA9778440

Gene: SEC23B

Linked Data

• ClinVar Variation Id: 571371
• ClinVar RCV Id: RCV000692503 ; RCV001141559 ; RCV001811442
• dbSNP Id: rs371786580
• ExAC: 20:18523822 T / C
• gnomAD v2: 20-18523822-T-C
• gnomAD v3: 20-18543178-T-C
• gnomAD v4: 20-18543178-T-C
• MyVariant Identifiers: chr20:g.18523822T>C (hg19) ; chr20:g.18543178T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.18543178T>C , CM000682.2:g.18543178T>C	GRCh38
NC_000020.10:g.18523822T>C , CM000682.1:g.18523822T>C	GRCh37
NC_000020.9:g.18471822T>C	NCBI36
NG_016281.1:g.40635T>C
NG_016281.2:g.40697T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336714.8:c.1665+6T>C	ENSP00000338844.3:n.1665+6T>C
ENST00000377465.6:c.1665+6T>C	ENSP00000366685.1:n.1665+6T>C
ENST00000643747.1:c.1611+6T>C	ENSP00000496460.1:n.1611+6T>C
ENST00000650089.1:c.1665+6T>C MANE Select	ENSP00000497473.1:n.1665+6T>C
ENST00000262544.6:c.1665+6T>C	ENSP00000262544.2:n.1665+6T>C
ENST00000336714.7:c.1665+6T>C	ENSP00000338844.3:n.1665+6T>C
ENST00000377465.5:c.1665+6T>C	ENSP00000366685.1:n.1665+6T>C
ENST00000377475.7:c.1665+6T>C	ENSP00000366695.3:n.1665+6T>C
ENST00000422877.1:c.189+6T>C	ENSP00000409882.1:n.189+6T>C
NM_001172745.1:c.1665+6T>C	NP_001166216.1:n.1665+6T>C
NM_001172746.1:c.1611+6T>C	NP_001166217.1:n.1611+6T>C
NM_006363.4:c.1665+6T>C	NP_006354.2:n.1665+6T>C
NM_032985.4:c.1665+6T>C	NP_116780.1:n.1665+6T>C
NM_032986.3:c.1665+6T>C	NP_116781.1:n.1665+6T>C
NM_001172745.2:c.1665+6T>C	NP_001166216.1:n.1665+6T>C
NM_001172746.2:c.1611+6T>C	NP_001166217.1:n.1611+6T>C
NM_006363.6:c.1665+6T>C MANE Select	NP_006354.2:n.1665+6T>C
NM_032985.5:c.1665+6T>C	NP_116780.1:n.1665+6T>C
NM_032986.4:c.1665+6T>C	NP_116781.1:n.1665+6T>C
XM_017027593.1:c.1665+6T>C	XP_016883082.1:n.1665+6T>C
NM_001172745.3:c.1665+6T>C	NP_001166216.1:n.1665+6T>C
NM_001172746.3:c.1611+6T>C	NP_001166217.1:n.1611+6T>C
NM_032985.6:c.1665+6T>C	NP_116780.1:n.1665+6T>C
NM_032986.5:c.1665+6T>C	NP_116781.1:n.1665+6T>C