Canonical Allele Identifier: CA7161973

Gene: SEC23A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39074471C>T , CM000676.2:g.39074471C>T	GRCh38
NC_000014.8:g.39543675C>T , CM000676.1:g.39543675C>T	GRCh37
NC_000014.7:g.38613426C>T	NCBI36
NG_012157.1:g.33763G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006364.4:c.1047G>A MANE Select	NP_006355.2:p.Ala349=
ENST00000307712.11:c.1047G>A MANE Select	ENSP00000306881.6:p.Ala349=
NM_006364.2:c.1047G>A	NP_006355.2:p.Ala349=
NM_006364.3:c.1047G>A	NP_006355.2:p.Ala349=
ENST00000307712.10:c.1047G>A	ENSP00000306881.6:p.Ala349=
ENST00000537403.5:c.441G>A	ENSP00000444193.1:p.Ala147=
ENST00000545328.6:c.960G>A	ENSP00000445393.2:p.Ala320=
XM_005267262.1:c.1047G>A	XP_005267319.1:p.Ala349=
XM_005267262.2:c.1047G>A	XP_005267319.1:p.Ala349=
XM_011536355.1:c.1047G>A	XP_011534657.1:p.Ala349=
XM_011536355.3:c.1047G>A	XP_011534657.1:p.Ala349=
XM_017020928.2:c.1047G>A	XP_016876417.1:p.Ala349=