Canonical Allele Identifier: CA10652965
Community Standard Title: NC_000020.11:g.18507755C>G
Gene: SEC23B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.18507755C>G , CM000682.2:g.18507755C>G GRCh38
NC_000020.10:g.18488399C>G , CM000682.1:g.18488399C>G GRCh37
NC_000020.9:g.18436399C>G NCBI36
NG_016281.1:g.5212C>G
NG_016281.2:g.5274C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001172746.1:c.-250C>G NP_001166217.1:n.-250C>G
NM_001172746.2:c.-250C>G NP_001166217.1:n.-250C>G
NM_006363.4:c.-232C>G NP_006354.2:n.-232C>G
NM_032985.4:c.-250C>G NP_116780.1:n.-250C>G
NM_032985.5:c.-250C>G NP_116780.1:n.-250C>G
NM_032986.3:c.-15+86C>G NP_116781.1:n.-15+86C>G
NM_032986.4:c.-15+86C>G NP_116781.1:n.-15+86C>G
NM_032986.5:c.-15+86C>G NP_116781.1:n.-15+86C>G
ENST00000262544.6:c.-290C>G ENSP00000262544.2:n.-290C>G
ENST00000336714.7:c.-232C>G ENSP00000338844.3:n.-232C>G
ENST00000336714.8:c.-250C>G ENSP00000338844.3:n.-250C>G
ENST00000377475.7:c.-250C>G ENSP00000366695.3:n.-250C>G
ENST00000450074.5:c.-15+86C>G ENSP00000403971.1:n.-15+86C>G
ENST00000450074.6:c.-15+86C>G ENSP00000403971.1:n.-15+86C>G
ENST00000646240.1:c.-222+86C>G ENSP00000495008.1:n.-222+86C>G