Canonical Allele Identifier: CA438732308

Gene: SEPSECS

Linked Data

• gnomAD v4: 4-25144824-A-G
• MyVariant Identifiers: chr4:g.25146446A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144824A>G , CM000666.2:g.25144824A>G	GRCh38
NC_000004.11:g.25146446A>G , CM000666.1:g.25146446A>G	GRCh37
NC_000004.10:g.24755544A>G	NCBI36
NG_028222.1:g.20759T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.976T>C MANE Select	ENSP00000371535.2:p.Leu326=
ENST00000680581.1:c.976T>C	ENSP00000506483.1:p.Leu326=
ENST00000680824.1:n.2192T>C
ENST00000681071.1:n.1268T>C
ENST00000681341.1:n.2117T>C
ENST00000681948.1:c.1231T>C	ENSP00000505991.1:p.Leu411=
ENST00000358971.7:c.*774T>C	ENSP00000351857.3:n.*774T>C
ENST00000382103.6:c.976T>C	ENSP00000371535.2:p.Leu326=
ENST00000503150.1:c.258T>C
ENST00000505513.1:n.276T>C
ENST00000514585.5:c.*677T>C	ENSP00000421880.1:n.*677T>C
NM_016955.3:c.976T>C	NP_058651.3:p.Leu326=
XM_005248168.2:c.739T>C	XP_005248225.1:p.Leu247=
XM_006713965.2:c.796T>C	XP_006714028.1:p.Leu266=
XM_011513846.1:c.973T>C	XP_011512148.1:p.Leu325=
XM_011513847.1:c.943T>C	XP_011512149.1:p.Leu315=
XM_011513848.1:c.796T>C	XP_011512150.1:p.Leu266=
XM_011513846.2:c.973T>C	XP_011512148.1:p.Leu325=
XM_011513847.2:c.943T>C	XP_011512149.1:p.Leu315=
XM_017008277.1:c.1231T>C	XP_016863766.1:p.Leu411=
XM_017008278.1:c.553T>C	XP_016863767.1:p.Leu185=
NM_016955.4:c.976T>C MANE Select	NP_058651.3:p.Leu326=