Canonical Allele Identifier: CA356536883
Gene: SEPSECS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25144836C>A , CM000666.2:g.25144836C>A GRCh38
NC_000004.11:g.25146458C>A , CM000666.1:g.25146458C>A GRCh37
NC_000004.10:g.24755556C>A NCBI36
NG_028222.1:g.20747G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.964G>T MANE Select ENSP00000371535.2:p.Val322Phe
ENST00000680581.1:c.964G>T ENSP00000506483.1:p.Val322Phe
ENST00000680824.1:n.2180G>T
ENST00000681071.1:n.1256G>T
ENST00000681341.1:n.2105G>T
ENST00000681948.1:c.1219G>T ENSP00000505991.1:p.Val407Phe
ENST00000358971.7:c.*762G>T ENSP00000351857.3:n.*762G>T
ENST00000382103.6:c.964G>T ENSP00000371535.2:p.Val322Phe
ENST00000503150.1:c.246G>T
ENST00000505513.1:n.264G>T
ENST00000514585.5:c.*665G>T ENSP00000421880.1:n.*665G>T
NM_016955.3:c.964G>T NP_058651.3:p.Val322Phe
XM_005248168.2:c.727G>T XP_005248225.1:p.Val243Phe
XM_006713965.2:c.784G>T XP_006714028.1:p.Val262Phe
XM_011513846.1:c.961G>T XP_011512148.1:p.Val321Phe
XM_011513847.1:c.931G>T XP_011512149.1:p.Val311Phe
XM_011513848.1:c.784G>T XP_011512150.1:p.Val262Phe
XM_011513846.2:c.961G>T XP_011512148.1:p.Val321Phe
XM_011513847.2:c.931G>T XP_011512149.1:p.Val311Phe
XM_017008277.1:c.1219G>T XP_016863766.1:p.Val407Phe
XM_017008278.1:c.541G>T XP_016863767.1:p.Val181Phe
NM_016955.4:c.964G>T MANE Select NP_058651.3:p.Val322Phe