Canonical Allele Identifier: CA7162129

Gene: SEC23A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39091593A>C , CM000676.2:g.39091593A>C	GRCh38
NC_000014.8:g.39560797A>C , CM000676.1:g.39560797A>C	GRCh37
NC_000014.7:g.38630548A>C	NCBI36
NG_012157.1:g.16641T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006364.4:c.487T>G MANE Select	NP_006355.2:p.Leu163Val
ENST00000307712.11:c.487T>G MANE Select	ENSP00000306881.6:p.Leu163Val
NM_006364.2:c.487T>G	NP_006355.2:p.Leu163Val
NM_006364.3:c.487T>G	NP_006355.2:p.Leu163Val
ENST00000307712.10:c.487T>G	ENSP00000306881.6:p.Leu163Val
ENST00000545328.6:c.400T>G	ENSP00000445393.2:p.Leu134Val
ENST00000555017.5:c.487T>G	ENSP00000450819.1:p.Leu163Val
ENST00000555682.1:n.175T>G
XM_005267262.1:c.487T>G	XP_005267319.1:p.Leu163Val
XM_005267262.2:c.487T>G	XP_005267319.1:p.Leu163Val
XM_011536355.1:c.487T>G	XP_011534657.1:p.Leu163Val
XM_011536355.3:c.487T>G	XP_011534657.1:p.Leu163Val
XM_017020928.2:c.487T>G	XP_016876417.1:p.Leu163Val