Canonical Allele Identifier: CA7162147

Gene: SEC23A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39091713G>A , CM000676.2:g.39091713G>A	GRCh38
NC_000014.8:g.39560917G>A , CM000676.1:g.39560917G>A	GRCh37
NC_000014.7:g.38630668G>A	NCBI36
NG_012157.1:g.16521C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006364.4:c.367C>T MANE Select	NP_006355.2:p.Arg123Cys
ENST00000307712.11:c.367C>T MANE Select	ENSP00000306881.6:p.Arg123Cys
NM_006364.2:c.367C>T	NP_006355.2:p.Arg123Cys
NM_006364.3:c.367C>T	NP_006355.2:p.Arg123Cys
ENST00000307712.10:c.367C>T	ENSP00000306881.6:p.Arg123Cys
ENST00000545328.6:c.280C>T	ENSP00000445393.2:p.Arg94Cys
ENST00000555017.5:c.367C>T	ENSP00000450819.1:p.Arg123Cys
ENST00000555682.1:n.55C>T
ENST00000556092.5:c.367C>T	ENSP00000451230.1:p.Arg123Cys
XM_005267262.1:c.367C>T	XP_005267319.1:p.Arg123Cys
XM_005267262.2:c.367C>T	XP_005267319.1:p.Arg123Cys
XM_011536355.1:c.367C>T	XP_011534657.1:p.Arg123Cys
XM_011536355.3:c.367C>T	XP_011534657.1:p.Arg123Cys
XM_017020928.2:c.367C>T	XP_016876417.1:p.Arg123Cys