Canonical Allele Identifier: CA9778086
Community Standard Title: NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter)
Gene: SEC23B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.18524971C>T , CM000682.2:g.18524971C>T GRCh38
NC_000020.10:g.18505615C>T , CM000682.1:g.18505615C>T GRCh37
NC_000020.9:g.18453615C>T NCBI36
NG_016281.1:g.22428C>T
NG_016281.2:g.22490C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006363.6:c.640C>T MANE Select NP_006354.2:p.Gln214Ter
ENST00000650089.1:c.640C>T MANE Select ENSP00000497473.1:p.Gln214Ter
NM_001172745.1:c.640C>T NP_001166216.1:p.Gln214Ter
NM_001172745.2:c.640C>T NP_001166216.1:p.Gln214Ter
NM_001172745.3:c.640C>T NP_001166216.1:p.Gln214Ter
NM_001172746.1:c.586C>T NP_001166217.1:p.Gln196Ter
NM_001172746.2:c.586C>T NP_001166217.1:p.Gln196Ter
NM_001172746.3:c.586C>T NP_001166217.1:p.Gln196Ter
NM_006363.4:c.640C>T NP_006354.2:p.Gln214Ter
NM_032985.4:c.640C>T NP_116780.1:p.Gln214Ter
NM_032985.5:c.640C>T NP_116780.1:p.Gln214Ter
NM_032985.6:c.640C>T NP_116780.1:p.Gln214Ter
NM_032986.3:c.640C>T NP_116781.1:p.Gln214Ter
NM_032986.4:c.640C>T NP_116781.1:p.Gln214Ter
NM_032986.5:c.640C>T NP_116781.1:p.Gln214Ter
ENST00000262544.6:c.640C>T ENSP00000262544.2:p.Gln214Ter
ENST00000336714.7:c.640C>T ENSP00000338844.3:p.Gln214Ter
ENST00000336714.8:c.640C>T ENSP00000338844.3:p.Gln214Ter
ENST00000377465.5:c.640C>T ENSP00000366685.1:p.Gln214Ter
ENST00000377465.6:c.640C>T ENSP00000366685.1:p.Gln214Ter
ENST00000377475.7:c.640C>T ENSP00000366695.3:p.Gln214Ter
ENST00000450074.5:c.640C>T ENSP00000403971.1:p.Gln214Ter
ENST00000450074.6:c.640C>T ENSP00000403971.1:p.Gln214Ter
ENST00000643747.1:c.586C>T ENSP00000496460.1:p.Gln196Ter
XM_017027593.1:c.640C>T XP_016883082.1:p.Gln214Ter