Canonical Allele Identifier: CA10649377
Community Standard Title: NC_000020.11:g.18507704C>T
Gene: SEC23B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.18507704C>T , CM000682.2:g.18507704C>T GRCh38
NC_000020.10:g.18488348C>T , CM000682.1:g.18488348C>T GRCh37
NC_000020.9:g.18436348C>T NCBI36
NG_016281.1:g.5161C>T
NG_016281.2:g.5223C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001172746.1:c.-301C>T NP_001166217.1:n.-301C>T
NM_001172746.2:c.-301C>T NP_001166217.1:n.-301C>T
NM_006363.4:c.-283C>T NP_006354.2:n.-283C>T
NM_032985.4:c.-301C>T NP_116780.1:n.-301C>T
NM_032985.5:c.-301C>T NP_116780.1:n.-301C>T
NM_032986.3:c.-15+35C>T NP_116781.1:n.-15+35C>T
NM_032986.4:c.-15+35C>T NP_116781.1:n.-15+35C>T
NM_032986.5:c.-15+35C>T NP_116781.1:n.-15+35C>T
ENST00000262544.6:c.-341C>T ENSP00000262544.2:n.-341C>T
ENST00000336714.7:c.-283C>T ENSP00000338844.3:n.-283C>T
ENST00000336714.8:c.-301C>T ENSP00000338844.3:n.-301C>T
ENST00000377475.7:c.-301C>T ENSP00000366695.3:n.-301C>T
ENST00000450074.5:c.-15+35C>T ENSP00000403971.1:n.-15+35C>T
ENST00000450074.6:c.-15+35C>T ENSP00000403971.1:n.-15+35C>T
ENST00000646240.1:c.-222+35C>T ENSP00000495008.1:n.-222+35C>T