Canonical Allele Identifier: CA7161651

Gene: SEC23A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39039085G>A , CM000676.2:g.39039085G>A	GRCh38
NC_000014.8:g.39508289G>A , CM000676.1:g.39508289G>A	GRCh37
NC_000014.7:g.38578040G>A	NCBI36
NG_012157.1:g.69149C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006364.4:c.2154C>T MANE Select	NP_006355.2:p.Leu718=
ENST00000307712.11:c.2154C>T MANE Select	ENSP00000306881.6:p.Leu718=
NM_006364.2:c.2154C>T	NP_006355.2:p.Leu718=
NM_006364.3:c.2154C>T	NP_006355.2:p.Leu718=
ENST00000307712.10:c.2154C>T	ENSP00000306881.6:p.Leu718=
ENST00000537403.5:c.1548C>T	ENSP00000444193.1:p.Leu516=
ENST00000545328.6:c.2067C>T	ENSP00000445393.2:p.Leu689=
ENST00000554615.1:n.2349C>T
ENST00000555363.1:n.525C>T
XM_005267262.1:c.2226C>T	XP_005267319.1:p.Leu742=
XM_005267262.2:c.2226C>T	XP_005267319.1:p.Leu742=
XM_011536355.1:c.2226C>T	XP_011534657.1:p.Leu742=
XM_011536355.3:c.2226C>T	XP_011534657.1:p.Leu742=
XM_017020928.2:c.2154C>T	XP_016876417.1:p.Leu718=