Canonical Allele Identifier: CA389535300

Gene: SEC23A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39067277C>A , CM000676.2:g.39067277C>A	GRCh38
NC_000014.8:g.39536481C>A , CM000676.1:g.39536481C>A	GRCh37
NC_000014.7:g.38606232C>A	NCBI36
NG_012157.1:g.40957G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006364.4:c.1123G>T MANE Select	NP_006355.2:p.Asp375Tyr
ENST00000307712.11:c.1123G>T MANE Select	ENSP00000306881.6:p.Asp375Tyr
NM_006364.2:c.1123G>T	NP_006355.2:p.Asp375Tyr
NM_006364.3:c.1123G>T	NP_006355.2:p.Asp375Tyr
ENST00000307712.10:c.1123G>T	ENSP00000306881.6:p.Asp375Tyr
ENST00000537403.5:c.517G>T	ENSP00000444193.1:p.Asp173Tyr
ENST00000545328.6:c.1036G>T	ENSP00000445393.2:p.Asp346Tyr
XM_005267262.1:c.1123G>T	XP_005267319.1:p.Asp375Tyr
XM_005267262.2:c.1123G>T	XP_005267319.1:p.Asp375Tyr
XM_011536355.1:c.1123G>T	XP_011534657.1:p.Asp375Tyr
XM_011536355.3:c.1123G>T	XP_011534657.1:p.Asp375Tyr
XM_017020928.2:c.1123G>T	XP_016876417.1:p.Asp375Tyr