Canonical Allele Identifier: CA7162088

Gene: SEC23A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39086981G>T , CM000676.2:g.39086981G>T	GRCh38
NC_000014.8:g.39556185G>T , CM000676.1:g.39556185G>T	GRCh37
NC_000014.7:g.38625936G>T	NCBI36
NG_012157.1:g.21253C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006364.4:c.631C>A MANE Select	NP_006355.2:p.Leu211Ile
ENST00000307712.11:c.631C>A MANE Select	ENSP00000306881.6:p.Leu211Ile
NM_006364.2:c.631C>A	NP_006355.2:p.Leu211Ile
NM_006364.3:c.631C>A	NP_006355.2:p.Leu211Ile
ENST00000307712.10:c.631C>A	ENSP00000306881.6:p.Leu211Ile
ENST00000537403.5:c.25C>A	ENSP00000444193.1:p.Leu9Ile
ENST00000545328.6:c.544C>A	ENSP00000445393.2:p.Leu182Ile
XM_005267262.1:c.631C>A	XP_005267319.1:p.Leu211Ile
XM_005267262.2:c.631C>A	XP_005267319.1:p.Leu211Ile
XM_011536355.1:c.631C>A	XP_011534657.1:p.Leu211Ile
XM_011536355.3:c.631C>A	XP_011534657.1:p.Leu211Ile
XM_017020928.2:c.631C>A	XP_016876417.1:p.Leu211Ile