Canonical Allele Identifier: CA408361773

Gene: SEC23B

Linked Data

• MyVariant Identifiers: chr20:g.18511414C>A (hg19) ; chr20:g.18530770C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.18530770C>A , CM000682.2:g.18530770C>A	GRCh38
NC_000020.10:g.18511414C>A , CM000682.1:g.18511414C>A	GRCh37
NC_000020.9:g.18459414C>A	NCBI36
NG_016281.1:g.28227C>A
NG_016281.2:g.28289C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336714.8:c.1200C>A	ENSP00000338844.3:p.Phe400Leu
ENST00000377465.6:c.1200C>A	ENSP00000366685.1:p.Phe400Leu
ENST00000643747.1:c.1146C>A	ENSP00000496460.1:p.Phe382Leu
ENST00000650089.1:c.1200C>A MANE Select	ENSP00000497473.1:p.Phe400Leu
ENST00000262544.6:c.1200C>A	ENSP00000262544.2:p.Phe400Leu
ENST00000336714.7:c.1200C>A	ENSP00000338844.3:p.Phe400Leu
ENST00000377465.5:c.1200C>A	ENSP00000366685.1:p.Phe400Leu
ENST00000377475.7:c.1200C>A	ENSP00000366695.3:p.Phe400Leu
NM_001172745.1:c.1200C>A	NP_001166216.1:p.Phe400Leu
NM_001172746.1:c.1146C>A	NP_001166217.1:p.Phe382Leu
NM_006363.4:c.1200C>A	NP_006354.2:p.Phe400Leu
NM_032985.4:c.1200C>A	NP_116780.1:p.Phe400Leu
NM_032986.3:c.1200C>A	NP_116781.1:p.Phe400Leu
NM_001172745.2:c.1200C>A	NP_001166216.1:p.Phe400Leu
NM_001172746.2:c.1146C>A	NP_001166217.1:p.Phe382Leu
NM_006363.6:c.1200C>A MANE Select	NP_006354.2:p.Phe400Leu
NM_032985.5:c.1200C>A	NP_116780.1:p.Phe400Leu
NM_032986.4:c.1200C>A	NP_116781.1:p.Phe400Leu
XM_017027593.1:c.1200C>A	XP_016883082.1:p.Phe400Leu
NM_001172745.3:c.1200C>A	NP_001166216.1:p.Phe400Leu
NM_001172746.3:c.1146C>A	NP_001166217.1:p.Phe382Leu
NM_032985.6:c.1200C>A	NP_116780.1:p.Phe400Leu
NM_032986.5:c.1200C>A	NP_116781.1:p.Phe400Leu