Canonical Allele Identifier: CA408360319

Gene: SEC23B

Linked Data

• dbSNP Id: rs1471373100
• gnomAD v2: 20-18507158-A-G
• gnomAD v3: 20-18526514-A-G
• gnomAD v4: 20-18526514-A-G
• MyVariant Identifiers: chr20:g.18507158A>G (hg19) ; chr20:g.18526514A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.18526514A>G , CM000682.2:g.18526514A>G	GRCh38
NC_000020.10:g.18507158A>G , CM000682.1:g.18507158A>G	GRCh37
NC_000020.9:g.18455158A>G	NCBI36
NG_016281.1:g.23971A>G
NG_016281.2:g.24033A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000336714.8:c.976A>G	ENSP00000338844.3:p.Met326Val
ENST00000377465.6:c.976A>G	ENSP00000366685.1:p.Met326Val
ENST00000450074.6:c.976A>G	ENSP00000403971.1:p.Met326Val
ENST00000643747.1:c.922A>G	ENSP00000496460.1:p.Met308Val
ENST00000650089.1:c.976A>G MANE Select	ENSP00000497473.1:p.Met326Val
ENST00000262544.6:c.976A>G	ENSP00000262544.2:p.Met326Val
ENST00000336714.7:c.976A>G	ENSP00000338844.3:p.Met326Val
ENST00000377465.5:c.976A>G	ENSP00000366685.1:p.Met326Val
ENST00000377475.7:c.976A>G	ENSP00000366695.3:p.Met326Val
ENST00000450074.5:c.976A>G	ENSP00000403971.1:p.Met326Val
NM_001172745.1:c.976A>G	NP_001166216.1:p.Met326Val
NM_001172746.1:c.922A>G	NP_001166217.1:p.Met308Val
NM_006363.4:c.976A>G	NP_006354.2:p.Met326Val
NM_032985.4:c.976A>G	NP_116780.1:p.Met326Val
NM_032986.3:c.976A>G	NP_116781.1:p.Met326Val
NM_001172745.2:c.976A>G	NP_001166216.1:p.Met326Val
NM_001172746.2:c.922A>G	NP_001166217.1:p.Met308Val
NM_006363.6:c.976A>G MANE Select	NP_006354.2:p.Met326Val
NM_032985.5:c.976A>G	NP_116780.1:p.Met326Val
NM_032986.4:c.976A>G	NP_116781.1:p.Met326Val
XM_017027593.1:c.976A>G	XP_016883082.1:p.Met326Val
NM_001172745.3:c.976A>G	NP_001166216.1:p.Met326Val
NM_001172746.3:c.922A>G	NP_001166217.1:p.Met308Val
NM_032985.6:c.976A>G	NP_116780.1:p.Met326Val
NM_032986.5:c.976A>G	NP_116781.1:p.Met326Val