Canonical Allele Identifier: CA356542562

Gene: SEPSECS

Linked Data

• MyVariant Identifiers: chr4:g.25158492A>C (hg19) ; chr4:g.25156870A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156870A>C , CM000666.2:g.25156870A>C	GRCh38
NC_000004.11:g.25158492A>C , CM000666.1:g.25158492A>C	GRCh37
NC_000004.10:g.24767590A>C	NCBI36
NG_028222.1:g.8713T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.374T>G MANE Select	ENSP00000371535.2:p.Ile125Ser
ENST00000680581.1:c.374T>G	ENSP00000506483.1:p.Ile125Ser
ENST00000680824.1:n.1590T>G
ENST00000681071.1:n.666T>G
ENST00000681166.1:n.1421T>G
ENST00000681341.1:n.1515T>G
ENST00000681640.1:n.468T>G
ENST00000681948.1:c.629T>G	ENSP00000505991.1:p.Ile210Ser
ENST00000358971.7:c.*172T>G	ENSP00000351857.3:n.*172T>G
ENST00000382103.6:c.374T>G	ENSP00000371535.2:p.Ile125Ser
ENST00000514585.5:c.*75T>G	ENSP00000421880.1:n.*75T>G
NM_016955.3:c.374T>G	NP_058651.3:p.Ile125Ser
XM_005248168.2:c.137T>G	XP_005248225.1:p.Ile46Ser
XM_006713965.2:c.194T>G	XP_006714028.1:p.Ile65Ser
XM_011513846.1:c.371T>G	XP_011512148.1:p.Ile124Ser
XM_011513847.1:c.341T>G	XP_011512149.1:p.Ile114Ser
XM_011513848.1:c.194T>G	XP_011512150.1:p.Ile65Ser
XM_011513846.2:c.371T>G	XP_011512148.1:p.Ile124Ser
XM_011513847.2:c.341T>G	XP_011512149.1:p.Ile114Ser
XM_017008277.1:c.629T>G	XP_016863766.1:p.Ile210Ser
XM_017008278.1:c.-50T>G	XP_016863767.1:n.-50T>G
NM_016955.4:c.374T>G MANE Select	NP_058651.3:p.Ile125Ser