Canonical Allele Identifier: CA389535177

Gene: SEC23A

Linked Data

• MyVariant Identifiers: chr14:g.39536425G>T (hg19) ; chr14:g.39067221G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39067221G>T , CM000676.2:g.39067221G>T	GRCh38
NC_000014.8:g.39536425G>T , CM000676.1:g.39536425G>T	GRCh37
NC_000014.7:g.38606176G>T	NCBI36
NG_012157.1:g.41013C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307712.11:c.1179C>A MANE Select	ENSP00000306881.6:p.Asp393Glu
ENST00000307712.10:c.1179C>A	ENSP00000306881.6:p.Asp393Glu
ENST00000537403.5:c.573C>A	ENSP00000444193.1:p.Asp191Glu
ENST00000545328.6:c.1092C>A	ENSP00000445393.2:p.Asp364Glu
NM_006364.2:c.1179C>A	NP_006355.2:p.Asp393Glu
XM_005267262.1:c.1179C>A	XP_005267319.1:p.Asp393Glu
XM_011536355.1:c.1179C>A	XP_011534657.1:p.Asp393Glu
NM_006364.3:c.1179C>A	NP_006355.2:p.Asp393Glu
XM_005267262.2:c.1179C>A	XP_005267319.1:p.Asp393Glu
XM_011536355.3:c.1179C>A	XP_011534657.1:p.Asp393Glu
XM_017020928.2:c.1179C>A	XP_016876417.1:p.Asp393Glu
NM_006364.4:c.1179C>A MANE Select	NP_006355.2:p.Asp393Glu