Canonical Allele Identifier: CA7161929

Gene: SEC23A

Linked Data

• dbSNP Id: rs775480198
• ExAC: 14:39536424 T / C
• gnomAD v2: 14-39536424-T-C
• gnomAD v4: 14-39067220-T-C
• MyVariant Identifiers: chr14:g.39536424T>C (hg19) ; chr14:g.39067220T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39067220T>C , CM000676.2:g.39067220T>C	GRCh38
NC_000014.8:g.39536424T>C , CM000676.1:g.39536424T>C	GRCh37
NC_000014.7:g.38606175T>C	NCBI36
NG_012157.1:g.41014A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307712.11:c.1180A>G MANE Select	ENSP00000306881.6:p.Met394Val
ENST00000307712.10:c.1180A>G	ENSP00000306881.6:p.Met394Val
ENST00000537403.5:c.574A>G	ENSP00000444193.1:p.Met192Val
ENST00000545328.6:c.1093A>G	ENSP00000445393.2:p.Met365Val
NM_006364.2:c.1180A>G	NP_006355.2:p.Met394Val
XM_005267262.1:c.1180A>G	XP_005267319.1:p.Met394Val
XM_011536355.1:c.1180A>G	XP_011534657.1:p.Met394Val
NM_006364.3:c.1180A>G	NP_006355.2:p.Met394Val
XM_005267262.2:c.1180A>G	XP_005267319.1:p.Met394Val
XM_011536355.3:c.1180A>G	XP_011534657.1:p.Met394Val
XM_017020928.2:c.1180A>G	XP_016876417.1:p.Met394Val
NM_006364.4:c.1180A>G MANE Select	NP_006355.2:p.Met394Val