Canonical Allele Identifier: CA7161932

Gene: SEC23A

Linked Data

• dbSNP Id: rs773481482
• ExAC: 14:39536441 C / T
• gnomAD v2: 14-39536441-C-T
• gnomAD v4: 14-39067237-C-T
• MyVariant Identifiers: chr14:g.39536441C>T (hg19) ; chr14:g.39067237C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39067237C>T , CM000676.2:g.39067237C>T	GRCh38
NC_000014.8:g.39536441C>T , CM000676.1:g.39536441C>T	GRCh37
NC_000014.7:g.38606192C>T	NCBI36
NG_012157.1:g.40997G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307712.11:c.1163G>A MANE Select	ENSP00000306881.6:p.Arg388Lys
ENST00000307712.10:c.1163G>A	ENSP00000306881.6:p.Arg388Lys
ENST00000537403.5:c.557G>A	ENSP00000444193.1:p.Arg186Lys
ENST00000545328.6:c.1076G>A	ENSP00000445393.2:p.Arg359Lys
NM_006364.2:c.1163G>A	NP_006355.2:p.Arg388Lys
XM_005267262.1:c.1163G>A	XP_005267319.1:p.Arg388Lys
XM_011536355.1:c.1163G>A	XP_011534657.1:p.Arg388Lys
NM_006364.3:c.1163G>A	NP_006355.2:p.Arg388Lys
XM_005267262.2:c.1163G>A	XP_005267319.1:p.Arg388Lys
XM_011536355.3:c.1163G>A	XP_011534657.1:p.Arg388Lys
XM_017020928.2:c.1163G>A	XP_016876417.1:p.Arg388Lys
NM_006364.4:c.1163G>A MANE Select	NP_006355.2:p.Arg388Lys