Canonical Allele Identifier: CA356542563

Gene: SEPSECS

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.374T>C MANE Select	ENSP00000371535.2:p.Ile125Thr
ENST00000680581.1:c.374T>C	ENSP00000506483.1:p.Ile125Thr
ENST00000680824.1:n.1590T>C
ENST00000681071.1:n.666T>C
ENST00000681166.1:n.1421T>C
ENST00000681341.1:n.1515T>C
ENST00000681640.1:n.468T>C
ENST00000681948.1:c.629T>C	ENSP00000505991.1:p.Ile210Thr
ENST00000358971.7:c.*172T>C	ENSP00000351857.3:n.*172T>C
ENST00000382103.6:c.374T>C	ENSP00000371535.2:p.Ile125Thr
ENST00000514585.5:c.*75T>C	ENSP00000421880.1:n.*75T>C
NM_016955.3:c.374T>C	NP_058651.3:p.Ile125Thr
XM_005248168.2:c.137T>C	XP_005248225.1:p.Ile46Thr
XM_006713965.2:c.194T>C	XP_006714028.1:p.Ile65Thr
XM_011513846.1:c.371T>C	XP_011512148.1:p.Ile124Thr
XM_011513847.1:c.341T>C	XP_011512149.1:p.Ile114Thr
XM_011513848.1:c.194T>C	XP_011512150.1:p.Ile65Thr
XM_011513846.2:c.371T>C	XP_011512148.1:p.Ile124Thr
XM_011513847.2:c.341T>C	XP_011512149.1:p.Ile114Thr
XM_017008277.1:c.629T>C	XP_016863766.1:p.Ile210Thr
XM_017008278.1:c.-50T>C	XP_016863767.1:n.-50T>C
NM_016955.4:c.374T>C MANE Select	NP_058651.3:p.Ile125Thr