Canonical Allele Identifier: CA7161739

Gene: SEC23A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39045198T>C , CM000676.2:g.39045198T>C	GRCh38
NC_000014.8:g.39514402T>C , CM000676.1:g.39514402T>C	GRCh37
NC_000014.7:g.38584153T>C	NCBI36
NG_012157.1:g.63036A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006364.4:c.1864A>G MANE Select	NP_006355.2:p.Ile622Val
ENST00000307712.11:c.1864A>G MANE Select	ENSP00000306881.6:p.Ile622Val
NM_006364.2:c.1864A>G	NP_006355.2:p.Ile622Val
NM_006364.3:c.1864A>G	NP_006355.2:p.Ile622Val
ENST00000307712.10:c.1864A>G	ENSP00000306881.6:p.Ile622Val
ENST00000537403.5:c.1258A>G	ENSP00000444193.1:p.Ile420Val
ENST00000545328.6:c.1777A>G	ENSP00000445393.2:p.Ile593Val
XM_005267262.1:c.1936A>G	XP_005267319.1:p.Ile646Val
XM_005267262.2:c.1936A>G	XP_005267319.1:p.Ile646Val
XM_011536355.1:c.1936A>G	XP_011534657.1:p.Ile646Val
XM_011536355.3:c.1936A>G	XP_011534657.1:p.Ile646Val
XM_017020928.2:c.1864A>G	XP_016876417.1:p.Ile622Val