Canonical Allele Identifier: CA389535221

Gene: SEC23A

Linked Data

• gnomAD v4: 14-39067241-G-C
• MyVariant Identifiers: chr14:g.39536445G>C (hg19) ; chr14:g.39067241G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39067241G>C , CM000676.2:g.39067241G>C	GRCh38
NC_000014.8:g.39536445G>C , CM000676.1:g.39536445G>C	GRCh37
NC_000014.7:g.38606196G>C	NCBI36
NG_012157.1:g.40993C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307712.11:c.1159C>G MANE Select	ENSP00000306881.6:p.Gln387Glu
ENST00000307712.10:c.1159C>G	ENSP00000306881.6:p.Gln387Glu
ENST00000537403.5:c.553C>G	ENSP00000444193.1:p.Gln185Glu
ENST00000545328.6:c.1072C>G	ENSP00000445393.2:p.Gln358Glu
NM_006364.2:c.1159C>G	NP_006355.2:p.Gln387Glu
XM_005267262.1:c.1159C>G	XP_005267319.1:p.Gln387Glu
XM_011536355.1:c.1159C>G	XP_011534657.1:p.Gln387Glu
NM_006364.3:c.1159C>G	NP_006355.2:p.Gln387Glu
XM_005267262.2:c.1159C>G	XP_005267319.1:p.Gln387Glu
XM_011536355.3:c.1159C>G	XP_011534657.1:p.Gln387Glu
XM_017020928.2:c.1159C>G	XP_016876417.1:p.Gln387Glu
NM_006364.4:c.1159C>G MANE Select	NP_006355.2:p.Gln387Glu