Canonical Allele Identifier: CA114858
Gene: SEC23A HGNC NCBI

Linked Data

ClinVar Variation Id: 1228
ClinVar RCV Id: RCV000001287
dbSNP Id: rs118204000
MyVariant Identifiers: chr14:g.39536460A>G (hg19) chr14:g.39067256A>G (hg38)
PubMed: PMID:16980979 PMID:17981132
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.39067256A>G , CM000676.2:g.39067256A>G GRCh38
NC_000014.8:g.39536460A>G , CM000676.1:g.39536460A>G GRCh37
NC_000014.7:g.38606211A>G NCBI36
NG_012157.1:g.40978T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307712.11:c.1144T>C MANE Select ENSP00000306881.6:p.Phe382Leu
ENST00000307712.10:c.1144T>C ENSP00000306881.6:p.Phe382Leu
ENST00000537403.5:c.538T>C ENSP00000444193.1:p.Phe180Leu
ENST00000545328.6:c.1057T>C ENSP00000445393.2:p.Phe353Leu
NM_006364.2:c.1144T>C NP_006355.2:p.Phe382Leu
XM_005267262.1:c.1144T>C XP_005267319.1:p.Phe382Leu
XM_011536355.1:c.1144T>C XP_011534657.1:p.Phe382Leu
NM_006364.3:c.1144T>C NP_006355.2:p.Phe382Leu
XM_005267262.2:c.1144T>C XP_005267319.1:p.Phe382Leu
XM_011536355.3:c.1144T>C XP_011534657.1:p.Phe382Leu
XM_017020928.2:c.1144T>C XP_016876417.1:p.Phe382Leu
NM_006364.4:c.1144T>C MANE Select NP_006355.2:p.Phe382Leu
Search 100 bp 5'
Search 100 bp 3'