Canonical Allele Identifier: CA9778621

Gene: SEC23B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.18555111C>T , CM000682.2:g.18555111C>T	GRCh38
NC_000020.10:g.18535755C>T , CM000682.1:g.18535755C>T	GRCh37
NC_000020.9:g.18483755C>T	NCBI36
NG_016281.1:g.52568C>T
NG_016281.2:g.52630C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006363.6:c.2152C>T MANE Select	NP_006354.2:p.Arg718Ter
ENST00000650089.1:c.2152C>T MANE Select	ENSP00000497473.1:p.Arg718Ter
NM_001172745.1:c.2152C>T	NP_001166216.1:p.Arg718Ter
NM_001172745.2:c.2152C>T	NP_001166216.1:p.Arg718Ter
NM_001172745.3:c.2152C>T	NP_001166216.1:p.Arg718Ter
NM_001172746.1:c.2098C>T	NP_001166217.1:p.Arg700Ter
NM_001172746.2:c.2098C>T	NP_001166217.1:p.Arg700Ter
NM_001172746.3:c.2098C>T	NP_001166217.1:p.Arg700Ter
NM_006363.4:c.2152C>T	NP_006354.2:p.Arg718Ter
NM_032985.4:c.2152C>T	NP_116780.1:p.Arg718Ter
NM_032985.5:c.2152C>T	NP_116780.1:p.Arg718Ter
NM_032985.6:c.2152C>T	NP_116780.1:p.Arg718Ter
NM_032986.3:c.2152C>T	NP_116781.1:p.Arg718Ter
NM_032986.4:c.2152C>T	NP_116781.1:p.Arg718Ter
NM_032986.5:c.2152C>T	NP_116781.1:p.Arg718Ter
ENST00000262544.6:c.2152C>T	ENSP00000262544.2:p.Arg718Ter
ENST00000336714.7:c.2152C>T	ENSP00000338844.3:p.Arg718Ter
ENST00000336714.8:c.2152C>T	ENSP00000338844.3:p.Arg718Ter
ENST00000377465.5:c.2152C>T	ENSP00000366685.1:p.Arg718Ter
ENST00000377465.6:c.2152C>T	ENSP00000366685.1:p.Arg718Ter
ENST00000377475.7:c.2152C>T	ENSP00000366695.3:p.Arg718Ter
ENST00000422877.1:c.589C>T	ENSP00000409882.1:p.Arg197Ter
ENST00000643747.1:c.2098C>T	ENSP00000496460.1:p.Arg700Ter
XM_017027593.1:c.2152C>T	XP_016883082.1:p.Arg718Ter