Canonical Allele Identifier: CA389535267

Gene: SEC23A

Linked Data

• COSMIC: COSM3495978 ; COSM3495979
• MyVariant Identifiers: chr14:g.39536465G>A (hg19) ; chr14:g.39067261G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39067261G>A , CM000676.2:g.39067261G>A	GRCh38
NC_000014.8:g.39536465G>A , CM000676.1:g.39536465G>A	GRCh37
NC_000014.7:g.38606216G>A	NCBI36
NG_012157.1:g.40973C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307712.11:c.1139C>T MANE Select	ENSP00000306881.6:p.Ser380Phe
ENST00000307712.10:c.1139C>T	ENSP00000306881.6:p.Ser380Phe
ENST00000537403.5:c.533C>T	ENSP00000444193.1:p.Ser178Phe
ENST00000545328.6:c.1052C>T	ENSP00000445393.2:p.Ser351Phe
NM_006364.2:c.1139C>T	NP_006355.2:p.Ser380Phe
XM_005267262.1:c.1139C>T	XP_005267319.1:p.Ser380Phe
XM_011536355.1:c.1139C>T	XP_011534657.1:p.Ser380Phe
NM_006364.3:c.1139C>T	NP_006355.2:p.Ser380Phe
XM_005267262.2:c.1139C>T	XP_005267319.1:p.Ser380Phe
XM_011536355.3:c.1139C>T	XP_011534657.1:p.Ser380Phe
XM_017020928.2:c.1139C>T	XP_016876417.1:p.Ser380Phe
NM_006364.4:c.1139C>T MANE Select	NP_006355.2:p.Ser380Phe