Canonical Allele Identifier: CA7161748

Gene: SEC23A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39045278T>C , CM000676.2:g.39045278T>C	GRCh38
NC_000014.8:g.39514482T>C , CM000676.1:g.39514482T>C	GRCh37
NC_000014.7:g.38584233T>C	NCBI36
NG_012157.1:g.62956A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006364.4:c.1784A>G MANE Select	NP_006355.2:p.Asn595Ser
ENST00000307712.11:c.1784A>G MANE Select	ENSP00000306881.6:p.Asn595Ser
NM_006364.2:c.1784A>G	NP_006355.2:p.Asn595Ser
NM_006364.3:c.1784A>G	NP_006355.2:p.Asn595Ser
ENST00000307712.10:c.1784A>G	ENSP00000306881.6:p.Asn595Ser
ENST00000537403.5:c.1178A>G	ENSP00000444193.1:p.Asn393Ser
ENST00000545328.6:c.1697A>G	ENSP00000445393.2:p.Asn566Ser
XM_005267262.1:c.1856A>G	XP_005267319.1:p.Asn619Ser
XM_005267262.2:c.1856A>G	XP_005267319.1:p.Asn619Ser
XM_011536355.1:c.1856A>G	XP_011534657.1:p.Asn619Ser
XM_011536355.3:c.1856A>G	XP_011534657.1:p.Asn619Ser
XM_017020928.2:c.1784A>G	XP_016876417.1:p.Asn595Ser