Canonical Allele Identifier: CA356536849

Gene: SEPSECS

Linked Data

• ClinVar Variation Id: 2495480
• ClinVar RCV Id: RCV003213601
• MyVariant Identifiers: chr4:g.25146449T>G (hg19) ; chr4:g.25144827T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144827T>G , CM000666.2:g.25144827T>G	GRCh38
NC_000004.11:g.25146449T>G , CM000666.1:g.25146449T>G	GRCh37
NC_000004.10:g.24755547T>G	NCBI36
NG_028222.1:g.20756A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.973A>C MANE Select	ENSP00000371535.2:p.Thr325Pro
ENST00000680581.1:c.973A>C	ENSP00000506483.1:p.Thr325Pro
ENST00000680824.1:n.2189A>C
ENST00000681071.1:n.1265A>C
ENST00000681341.1:n.2114A>C
ENST00000681948.1:c.1228A>C	ENSP00000505991.1:p.Thr410Pro
ENST00000358971.7:c.*771A>C	ENSP00000351857.3:n.*771A>C
ENST00000382103.6:c.973A>C	ENSP00000371535.2:p.Thr325Pro
ENST00000503150.1:c.255A>C
ENST00000505513.1:n.273A>C
ENST00000514585.5:c.*674A>C	ENSP00000421880.1:n.*674A>C
NM_016955.3:c.973A>C	NP_058651.3:p.Thr325Pro
XM_005248168.2:c.736A>C	XP_005248225.1:p.Thr246Pro
XM_006713965.2:c.793A>C	XP_006714028.1:p.Thr265Pro
XM_011513846.1:c.970A>C	XP_011512148.1:p.Thr324Pro
XM_011513847.1:c.940A>C	XP_011512149.1:p.Thr314Pro
XM_011513848.1:c.793A>C	XP_011512150.1:p.Thr265Pro
XM_011513846.2:c.970A>C	XP_011512148.1:p.Thr324Pro
XM_011513847.2:c.940A>C	XP_011512149.1:p.Thr314Pro
XM_017008277.1:c.1228A>C	XP_016863766.1:p.Thr410Pro
XM_017008278.1:c.550A>C	XP_016863767.1:p.Thr184Pro
NM_016955.4:c.973A>C MANE Select	NP_058651.3:p.Thr325Pro