Canonical Allele Identifier: CA356540569

Gene: SEPSECS

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25152049C>G , CM000666.2:g.25152049C>G	GRCh38
NC_000004.11:g.25153671C>G , CM000666.1:g.25153671C>G	GRCh37
NC_000004.10:g.24762769C>G	NCBI36
NG_028222.1:g.13534G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_016955.4:c.715G>C MANE Select	NP_058651.3:p.Ala239Pro
ENST00000382103.7:c.715G>C MANE Select	ENSP00000371535.2:p.Ala239Pro
NM_016955.3:c.715G>C	NP_058651.3:p.Ala239Pro
ENST00000358971.7:c.*513G>C	ENSP00000351857.3:n.*513G>C
ENST00000382103.6:c.715G>C	ENSP00000371535.2:p.Ala239Pro
ENST00000503150.1:c.216+2949G>C
ENST00000505513.1:n.234+2949G>C
ENST00000514585.5:c.*416G>C	ENSP00000421880.1:n.*416G>C
ENST00000680581.1:c.715G>C	ENSP00000506483.1:p.Ala239Pro
ENST00000680824.1:n.1931G>C
ENST00000681071.1:n.1007G>C
ENST00000681341.1:n.1856G>C
ENST00000681948.1:c.970G>C	ENSP00000505991.1:p.Ala324Pro
XM_005248168.2:c.478G>C	XP_005248225.1:p.Ala160Pro
XM_006713965.2:c.535G>C	XP_006714028.1:p.Ala179Pro
XM_011513846.1:c.712G>C	XP_011512148.1:p.Ala238Pro
XM_011513846.2:c.712G>C	XP_011512148.1:p.Ala238Pro
XM_011513847.1:c.682G>C	XP_011512149.1:p.Ala228Pro
XM_011513847.2:c.682G>C	XP_011512149.1:p.Ala228Pro
XM_011513848.1:c.535G>C	XP_011512150.1:p.Ala179Pro
XM_017008277.1:c.970G>C	XP_016863766.1:p.Ala324Pro
XM_017008278.1:c.292G>C	XP_016863767.1:p.Ala98Pro