Canonical Allele Identifier: CA550288276
Gene: SEPSECS HGNC NCBI

Linked Data

dbSNP Id: rs1373757050
gnomAD v2: 4-25146333-A-C
gnomAD v3: 4-25144711-A-C
gnomAD v4: 4-25144711-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25144711A>C , CM000666.2:g.25144711A>C GRCh38
NC_000004.11:g.25146333A>C , CM000666.1:g.25146333A>C GRCh37
NC_000004.10:g.24755431A>C NCBI36
NG_028222.1:g.20872T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382103.7:c.1026+63T>G MANE Select ENSP00000371535.2:n.1026+63T>G
ENST00000680581.1:c.1026+63T>G ENSP00000506483.1:n.1026+63T>G
ENST00000680824.1:n.2242+63T>G
ENST00000681071.1:n.1318+63T>G
ENST00000681341.1:n.2167+63T>G
ENST00000681948.1:c.1281+63T>G ENSP00000505991.1:n.1281+63T>G
ENST00000358971.7:c.*824+63T>G ENSP00000351857.3:n.*824+63T>G
ENST00000382103.6:c.1026+63T>G ENSP00000371535.2:n.1026+63T>G
ENST00000503150.1:c.308+63T>G
ENST00000505513.1:n.326+63T>G
ENST00000514585.5:c.*727+63T>G ENSP00000421880.1:n.*727+63T>G
NM_016955.3:c.1026+63T>G NP_058651.3:n.1026+63T>G
XM_005248168.2:c.789+63T>G XP_005248225.1:n.789+63T>G
XM_006713965.2:c.846+63T>G XP_006714028.1:n.846+63T>G
XM_011513846.1:c.1023+63T>G XP_011512148.1:n.1023+63T>G
XM_011513847.1:c.993+63T>G XP_011512149.1:n.993+63T>G
XM_011513848.1:c.846+63T>G XP_011512150.1:n.846+63T>G
XM_011513846.2:c.1023+63T>G XP_011512148.1:n.1023+63T>G
XM_011513847.2:c.993+63T>G XP_011512149.1:n.993+63T>G
XM_017008277.1:c.1281+63T>G XP_016863766.1:n.1281+63T>G
XM_017008278.1:c.603+63T>G XP_016863767.1:n.603+63T>G
NM_016955.4:c.1026+63T>G MANE Select NP_058651.3:n.1026+63T>G