Canonical Allele Identifier: CA509829326
Gene: SEC23B HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.18523744T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.18543100T>C , CM000682.2:g.18543100T>C GRCh38
NC_000020.10:g.18523744T>C , CM000682.1:g.18523744T>C GRCh37
NC_000020.9:g.18471744T>C NCBI36
NG_016281.1:g.40557T>C
NG_016281.2:g.40619T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000336714.8:c.1593T>C ENSP00000338844.3:p.Leu531=
ENST00000377465.6:c.1593T>C ENSP00000366685.1:p.Leu531=
ENST00000643747.1:c.1539T>C ENSP00000496460.1:p.Leu513=
ENST00000650089.1:c.1593T>C MANE Select ENSP00000497473.1:p.Leu531=
ENST00000262544.6:c.1593T>C ENSP00000262544.2:p.Leu531=
ENST00000336714.7:c.1593T>C ENSP00000338844.3:p.Leu531=
ENST00000377465.5:c.1593T>C ENSP00000366685.1:p.Leu531=
ENST00000377475.7:c.1593T>C ENSP00000366695.3:p.Leu531=
ENST00000422877.1:c.117T>C ENSP00000409882.1:p.Leu39=
NM_001172745.1:c.1593T>C NP_001166216.1:p.Leu531=
NM_001172746.1:c.1539T>C NP_001166217.1:p.Leu513=
NM_006363.4:c.1593T>C NP_006354.2:p.Leu531=
NM_032985.4:c.1593T>C NP_116780.1:p.Leu531=
NM_032986.3:c.1593T>C NP_116781.1:p.Leu531=
NM_001172745.2:c.1593T>C NP_001166216.1:p.Leu531=
NM_001172746.2:c.1539T>C NP_001166217.1:p.Leu513=
NM_006363.6:c.1593T>C MANE Select NP_006354.2:p.Leu531=
NM_032985.5:c.1593T>C NP_116780.1:p.Leu531=
NM_032986.4:c.1593T>C NP_116781.1:p.Leu531=
XM_017027593.1:c.1593T>C XP_016883082.1:p.Leu531=
NM_001172745.3:c.1593T>C NP_001166216.1:p.Leu531=
NM_001172746.3:c.1539T>C NP_001166217.1:p.Leu513=
NM_032985.6:c.1593T>C NP_116780.1:p.Leu531=
NM_032986.5:c.1593T>C NP_116781.1:p.Leu531=