Canonical Allele Identifier: CA550289613

Gene: SEPSECS

Linked Data

• dbSNP Id: rs1341542693
• gnomAD v2: 4-25122225-T-G
• gnomAD v3: 4-25120603-T-G
• gnomAD v4: 4-25120603-T-G
• MyVariant Identifiers: chr4:g.25122225T>G (hg19) ; chr4:g.25120603T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25120603T>G , CM000666.2:g.25120603T>G	GRCh38
NC_000004.11:g.25122225T>G , CM000666.1:g.25122225T>G	GRCh37
NC_000004.10:g.24731323T>G	NCBI36
NG_028222.1:g.44980A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.*3328A>C MANE Select	ENSP00000371535.2:n.*3328A>C
ENST00000680581.1:c.*3708A>C	ENSP00000506483.1:n.*3708A>C
ENST00000680824.1:n.6050A>C
ENST00000681071.1:n.5126A>C
ENST00000681341.1:n.5881A>C
ENST00000681374.1:n.4190A>C
ENST00000681948.1:c.*3328A>C	ENSP00000505991.1:n.*3328A>C
ENST00000382103.6:c.*3328A>C	ENSP00000371535.2:n.*3328A>C
NM_016955.3:c.*3328A>C	NP_058651.3:n.*3328A>C
XM_005248168.2:c.*3328A>C	XP_005248225.1:n.*3328A>C
XM_006713965.2:c.*3328A>C	XP_006714028.1:n.*3328A>C
XM_011513846.1:c.*3328A>C	XP_011512148.1:n.*3328A>C
XM_011513847.1:c.*3328A>C	XP_011512149.1:n.*3328A>C
XM_011513848.1:c.*3328A>C	XP_011512150.1:n.*3328A>C
XM_011513846.2:c.*3328A>C	XP_011512148.1:n.*3328A>C
XM_011513847.2:c.*3328A>C	XP_011512149.1:n.*3328A>C
XM_017008277.1:c.*3328A>C	XP_016863766.1:n.*3328A>C
XM_017008278.1:c.*3328A>C	XP_016863767.1:n.*3328A>C
NM_016955.4:c.*3328A>C MANE Select	NP_058651.3:n.*3328A>C