Canonical Allele Identifier: CA356542590
Gene: SEPSECS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25156883A>C , CM000666.2:g.25156883A>C GRCh38
NC_000004.11:g.25158505A>C , CM000666.1:g.25158505A>C GRCh37
NC_000004.10:g.24767603A>C NCBI36
NG_028222.1:g.8700T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.361T>G MANE Select ENSP00000371535.2:p.Leu121Val
ENST00000680581.1:c.361T>G ENSP00000506483.1:p.Leu121Val
ENST00000680824.1:n.1577T>G
ENST00000681071.1:n.653T>G
ENST00000681166.1:n.1408T>G
ENST00000681341.1:n.1502T>G
ENST00000681640.1:n.455T>G
ENST00000681948.1:c.616T>G ENSP00000505991.1:p.Leu206Val
ENST00000358971.7:c.*159T>G ENSP00000351857.3:n.*159T>G
ENST00000382103.6:c.361T>G ENSP00000371535.2:p.Leu121Val
ENST00000514585.5:c.*62T>G ENSP00000421880.1:n.*62T>G
NM_016955.3:c.361T>G NP_058651.3:p.Leu121Val
XM_005248168.2:c.124T>G XP_005248225.1:p.Leu42Val
XM_006713965.2:c.181T>G XP_006714028.1:p.Leu61Val
XM_011513846.1:c.358T>G XP_011512148.1:p.Leu120Val
XM_011513847.1:c.328T>G XP_011512149.1:p.Leu110Val
XM_011513848.1:c.181T>G XP_011512150.1:p.Leu61Val
XM_011513846.2:c.358T>G XP_011512148.1:p.Leu120Val
XM_011513847.2:c.328T>G XP_011512149.1:p.Leu110Val
XM_017008277.1:c.616T>G XP_016863766.1:p.Leu206Val
XM_017008278.1:c.-63T>G XP_016863767.1:n.-63T>G
NM_016955.4:c.361T>G MANE Select NP_058651.3:p.Leu121Val