Canonical Allele Identifier: CA7161782
Community Standard Title: NM_006364.4(SEC23A):c.1668A>G (p.Lys556=)
Gene: SEC23A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.39048721T>C , CM000676.2:g.39048721T>C GRCh38
NC_000014.8:g.39517925T>C , CM000676.1:g.39517925T>C GRCh37
NC_000014.7:g.38587676T>C NCBI36
NG_012157.1:g.59513A>G

Transcript Alleles

HGVS Amino-acid Change
NM_006364.4:c.1668A>G MANE Select NP_006355.2:p.Lys556=
ENST00000307712.11:c.1668A>G MANE Select ENSP00000306881.6:p.Lys556=
NM_006364.2:c.1668A>G NP_006355.2:p.Lys556=
NM_006364.3:c.1668A>G NP_006355.2:p.Lys556=
ENST00000307712.10:c.1668A>G ENSP00000306881.6:p.Lys556=
ENST00000537403.5:c.1062A>G ENSP00000444193.1:p.Lys354=
ENST00000545328.6:c.1581A>G ENSP00000445393.2:p.Lys527=
XM_005267262.1:c.1668A>G XP_005267319.1:p.Lys556=
XM_005267262.2:c.1668A>G XP_005267319.1:p.Lys556=
XM_011536355.1:c.1668A>G XP_011534657.1:p.Lys556=
XM_011536355.3:c.1668A>G XP_011534657.1:p.Lys556=
XM_017020928.2:c.1668A>G XP_016876417.1:p.Lys556=