Canonical Allele Identifier: CA9778598
Community Standard Title: NM_006363.6(SEC23B):c.2129C>T (p.Thr710Met)
Gene: SEC23B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.18554371C>T , CM000682.2:g.18554371C>T GRCh38
NC_000020.10:g.18535015C>T , CM000682.1:g.18535015C>T GRCh37
NC_000020.9:g.18483015C>T NCBI36
NG_016281.1:g.51828C>T
NG_016281.2:g.51890C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006363.6:c.2129C>T MANE Select NP_006354.2:p.Thr710Met
ENST00000650089.1:c.2129C>T MANE Select ENSP00000497473.1:p.Thr710Met
NM_001172745.1:c.2129C>T NP_001166216.1:p.Thr710Met
NM_001172745.2:c.2129C>T NP_001166216.1:p.Thr710Met
NM_001172745.3:c.2129C>T NP_001166216.1:p.Thr710Met
NM_001172746.1:c.2075C>T NP_001166217.1:p.Thr692Met
NM_001172746.2:c.2075C>T NP_001166217.1:p.Thr692Met
NM_001172746.3:c.2075C>T NP_001166217.1:p.Thr692Met
NM_006363.4:c.2129C>T NP_006354.2:p.Thr710Met
NM_032985.4:c.2129C>T NP_116780.1:p.Thr710Met
NM_032985.5:c.2129C>T NP_116780.1:p.Thr710Met
NM_032985.6:c.2129C>T NP_116780.1:p.Thr710Met
NM_032986.3:c.2129C>T NP_116781.1:p.Thr710Met
NM_032986.4:c.2129C>T NP_116781.1:p.Thr710Met
NM_032986.5:c.2129C>T NP_116781.1:p.Thr710Met
ENST00000262544.6:c.2129C>T ENSP00000262544.2:p.Thr710Met
ENST00000336714.7:c.2129C>T ENSP00000338844.3:p.Thr710Met
ENST00000336714.8:c.2129C>T ENSP00000338844.3:p.Thr710Met
ENST00000377465.5:c.2129C>T ENSP00000366685.1:p.Thr710Met
ENST00000377465.6:c.2129C>T ENSP00000366685.1:p.Thr710Met
ENST00000377475.7:c.2129C>T ENSP00000366695.3:p.Thr710Met
ENST00000422877.1:c.566C>T ENSP00000409882.1:p.Thr189Met
ENST00000643747.1:c.2075C>T ENSP00000496460.1:p.Thr692Met
XM_017027593.1:c.2129C>T XP_016883082.1:p.Thr710Met