Canonical Allele Identifier: CA7162168

Gene: SEC23A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39092623G>A , CM000676.2:g.39092623G>A	GRCh38
NC_000014.8:g.39561827G>A , CM000676.1:g.39561827G>A	GRCh37
NC_000014.7:g.38631578G>A	NCBI36
NG_012157.1:g.15611C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006364.4:c.284C>T MANE Select	NP_006355.2:p.Pro95Leu
ENST00000307712.11:c.284C>T MANE Select	ENSP00000306881.6:p.Pro95Leu
NM_006364.2:c.284C>T	NP_006355.2:p.Pro95Leu
NM_006364.3:c.284C>T	NP_006355.2:p.Pro95Leu
ENST00000307712.10:c.284C>T	ENSP00000306881.6:p.Pro95Leu
ENST00000545328.6:c.279+564C>T	ENSP00000445393.2:n.279+564C>T
ENST00000555017.5:c.284C>T	ENSP00000450819.1:p.Pro95Leu
ENST00000556092.5:c.284C>T	ENSP00000451230.1:p.Pro95Leu
XM_005267262.1:c.284C>T	XP_005267319.1:p.Pro95Leu
XM_005267262.2:c.284C>T	XP_005267319.1:p.Pro95Leu
XM_011536355.1:c.284C>T	XP_011534657.1:p.Pro95Leu
XM_011536355.3:c.284C>T	XP_011534657.1:p.Pro95Leu
XM_017020928.2:c.284C>T	XP_016876417.1:p.Pro95Leu