Canonical Allele Identifier: CA2877272
Gene: SEPSECS HGNC NCBI

Linked Data

dbSNP Id: rs771930183
gnomAD v2: 4-25146345-G-A
gnomAD v4: 4-25144723-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25144723G>A , CM000666.2:g.25144723G>A GRCh38
NC_000004.11:g.25146345G>A , CM000666.1:g.25146345G>A GRCh37
NC_000004.10:g.24755443G>A NCBI36
NG_028222.1:g.20860C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382103.7:c.1026+51C>T MANE Select ENSP00000371535.2:n.1026+51C>T
ENST00000680581.1:c.1026+51C>T ENSP00000506483.1:n.1026+51C>T
ENST00000680824.1:n.2242+51C>T
ENST00000681071.1:n.1318+51C>T
ENST00000681341.1:n.2167+51C>T
ENST00000681948.1:c.1281+51C>T ENSP00000505991.1:n.1281+51C>T
ENST00000358971.7:c.*824+51C>T ENSP00000351857.3:n.*824+51C>T
ENST00000382103.6:c.1026+51C>T ENSP00000371535.2:n.1026+51C>T
ENST00000503150.1:c.308+51C>T
ENST00000505513.1:n.326+51C>T
ENST00000514585.5:c.*727+51C>T ENSP00000421880.1:n.*727+51C>T
NM_016955.3:c.1026+51C>T NP_058651.3:n.1026+51C>T
XM_005248168.2:c.789+51C>T XP_005248225.1:n.789+51C>T
XM_006713965.2:c.846+51C>T XP_006714028.1:n.846+51C>T
XM_011513846.1:c.1023+51C>T XP_011512148.1:n.1023+51C>T
XM_011513847.1:c.993+51C>T XP_011512149.1:n.993+51C>T
XM_011513848.1:c.846+51C>T XP_011512150.1:n.846+51C>T
XM_011513846.2:c.1023+51C>T XP_011512148.1:n.1023+51C>T
XM_011513847.2:c.993+51C>T XP_011512149.1:n.993+51C>T
XM_017008277.1:c.1281+51C>T XP_016863766.1:n.1281+51C>T
XM_017008278.1:c.603+51C>T XP_016863767.1:n.603+51C>T
NM_016955.4:c.1026+51C>T MANE Select NP_058651.3:n.1026+51C>T