Canonical Allele Identifier: CA2801261262

Gene: SEC23A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39067166T>C , CM000676.2:g.39067166T>C	GRCh38
NC_000014.8:g.39536370T>C , CM000676.1:g.39536370T>C	GRCh37
NC_000014.7:g.38606121T>C	NCBI36
NG_012157.1:g.41068A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307712.11:c.1227+7A>G MANE Select	ENSP00000306881.6:n.1227+7A>G
ENST00000307712.10:c.1227+7A>G	ENSP00000306881.6:n.1227+7A>G
ENST00000537403.5:c.621+7A>G	ENSP00000444193.1:n.621+7A>G
ENST00000545328.6:c.1140+7A>G	ENSP00000445393.2:n.1140+7A>G
ENST00000553925.1:n.39+7A>G
NM_006364.2:c.1227+7A>G	NP_006355.2:n.1227+7A>G
XM_005267262.1:c.1227+7A>G	XP_005267319.1:n.1227+7A>G
XM_011536355.1:c.1227+7A>G	XP_011534657.1:n.1227+7A>G
NM_006364.3:c.1227+7A>G	NP_006355.2:n.1227+7A>G
XM_005267262.2:c.1227+7A>G	XP_005267319.1:n.1227+7A>G
XM_011536355.3:c.1227+7A>G	XP_011534657.1:n.1227+7A>G
XM_017020928.2:c.1227+7A>G	XP_016876417.1:n.1227+7A>G
NM_006364.4:c.1227+7A>G MANE Select	NP_006355.2:n.1227+7A>G