Canonical Allele Identifier: CA356536693
Gene: SEPSECS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25144790A>T , CM000666.2:g.25144790A>T GRCh38
NC_000004.11:g.25146412A>T , CM000666.1:g.25146412A>T GRCh37
NC_000004.10:g.24755510A>T NCBI36
NG_028222.1:g.20793T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.1010T>A MANE Select ENSP00000371535.2:p.Leu337Gln
ENST00000680581.1:c.1010T>A ENSP00000506483.1:p.Leu337Gln
ENST00000680824.1:n.2226T>A
ENST00000681071.1:n.1302T>A
ENST00000681341.1:n.2151T>A
ENST00000681948.1:c.1265T>A ENSP00000505991.1:p.Leu422Gln
ENST00000358971.7:c.*808T>A ENSP00000351857.3:n.*808T>A
ENST00000382103.6:c.1010T>A ENSP00000371535.2:p.Leu337Gln
ENST00000503150.1:c.292T>A
ENST00000505513.1:n.310T>A
ENST00000514585.5:c.*711T>A ENSP00000421880.1:n.*711T>A
NM_016955.3:c.1010T>A NP_058651.3:p.Leu337Gln
XM_005248168.2:c.773T>A XP_005248225.1:p.Leu258Gln
XM_006713965.2:c.830T>A XP_006714028.1:p.Leu277Gln
XM_011513846.1:c.1007T>A XP_011512148.1:p.Leu336Gln
XM_011513847.1:c.977T>A XP_011512149.1:p.Leu326Gln
XM_011513848.1:c.830T>A XP_011512150.1:p.Leu277Gln
XM_011513846.2:c.1007T>A XP_011512148.1:p.Leu336Gln
XM_011513847.2:c.977T>A XP_011512149.1:p.Leu326Gln
XM_017008277.1:c.1265T>A XP_016863766.1:p.Leu422Gln
XM_017008278.1:c.587T>A XP_016863767.1:p.Leu196Gln
NM_016955.4:c.1010T>A MANE Select NP_058651.3:p.Leu337Gln