Canonical Allele Identifier: CA93575693

Gene: SEPSECS

Linked Data

• dbSNP Id: rs1051685685
• gnomAD v2: 4-25145855-G-A
• gnomAD v3: 4-25144233-G-A
• gnomAD v4: 4-25144233-G-A
• MyVariant Identifiers: chr4:g.25145855G>A (hg19) ; chr4:g.25144233G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144233G>A , CM000666.2:g.25144233G>A	GRCh38
NC_000004.11:g.25145855G>A , CM000666.1:g.25145855G>A	GRCh37
NC_000004.10:g.24754953G>A	NCBI36
NG_028222.1:g.21350C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.1026+541C>T MANE Select	ENSP00000371535.2:n.1026+541C>T
ENST00000680581.1:c.1026+541C>T	ENSP00000506483.1:n.1026+541C>T
ENST00000680824.1:n.2242+541C>T
ENST00000681071.1:n.1318+541C>T
ENST00000681341.1:n.2167+541C>T
ENST00000681948.1:c.1281+541C>T	ENSP00000505991.1:n.1281+541C>T
ENST00000358971.7:c.*824+541C>T	ENSP00000351857.3:n.*824+541C>T
ENST00000382103.6:c.1026+541C>T	ENSP00000371535.2:n.1026+541C>T
ENST00000503150.1:c.308+541C>T
ENST00000505513.1:n.326+541C>T
ENST00000514585.5:c.*727+541C>T	ENSP00000421880.1:n.*727+541C>T
NM_016955.3:c.1026+541C>T	NP_058651.3:n.1026+541C>T
XM_005248168.2:c.789+541C>T	XP_005248225.1:n.789+541C>T
XM_006713965.2:c.846+541C>T	XP_006714028.1:n.846+541C>T
XM_011513846.1:c.1023+541C>T	XP_011512148.1:n.1023+541C>T
XM_011513847.1:c.993+541C>T	XP_011512149.1:n.993+541C>T
XM_011513848.1:c.846+541C>T	XP_011512150.1:n.846+541C>T
XM_011513846.2:c.1023+541C>T	XP_011512148.1:n.1023+541C>T
XM_011513847.2:c.993+541C>T	XP_011512149.1:n.993+541C>T
XM_017008277.1:c.1281+541C>T	XP_016863766.1:n.1281+541C>T
XM_017008278.1:c.603+541C>T	XP_016863767.1:n.603+541C>T
NM_016955.4:c.1026+541C>T MANE Select	NP_058651.3:n.1026+541C>T