Canonical Allele Identifier: CA389535254

Gene: SEC23A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39067254G>T , CM000676.2:g.39067254G>T	GRCh38
NC_000014.8:g.39536458G>T , CM000676.1:g.39536458G>T	GRCh37
NC_000014.7:g.38606209G>T	NCBI36
NG_012157.1:g.40980C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006364.4:c.1146C>A MANE Select	NP_006355.2:p.Phe382Leu
ENST00000307712.11:c.1146C>A MANE Select	ENSP00000306881.6:p.Phe382Leu
NM_006364.2:c.1146C>A	NP_006355.2:p.Phe382Leu
NM_006364.3:c.1146C>A	NP_006355.2:p.Phe382Leu
ENST00000307712.10:c.1146C>A	ENSP00000306881.6:p.Phe382Leu
ENST00000537403.5:c.540C>A	ENSP00000444193.1:p.Phe180Leu
ENST00000545328.6:c.1059C>A	ENSP00000445393.2:p.Phe353Leu
XM_005267262.1:c.1146C>A	XP_005267319.1:p.Phe382Leu
XM_005267262.2:c.1146C>A	XP_005267319.1:p.Phe382Leu
XM_011536355.1:c.1146C>A	XP_011534657.1:p.Phe382Leu
XM_011536355.3:c.1146C>A	XP_011534657.1:p.Phe382Leu
XM_017020928.2:c.1146C>A	XP_016876417.1:p.Phe382Leu