Canonical Allele Identifier: CA2877277
Gene: SEPSECS HGNC NCBI

Linked Data

dbSNP Id: rs759311470
gnomAD v2: 4-25146354-T-C
gnomAD v4: 4-25144732-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25144732T>C , CM000666.2:g.25144732T>C GRCh38
NC_000004.11:g.25146354T>C , CM000666.1:g.25146354T>C GRCh37
NC_000004.10:g.24755452T>C NCBI36
NG_028222.1:g.20851A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382103.7:c.1026+42A>G MANE Select ENSP00000371535.2:n.1026+42A>G
ENST00000680581.1:c.1026+42A>G ENSP00000506483.1:n.1026+42A>G
ENST00000680824.1:n.2242+42A>G
ENST00000681071.1:n.1318+42A>G
ENST00000681341.1:n.2167+42A>G
ENST00000681948.1:c.1281+42A>G ENSP00000505991.1:n.1281+42A>G
ENST00000358971.7:c.*824+42A>G ENSP00000351857.3:n.*824+42A>G
ENST00000382103.6:c.1026+42A>G ENSP00000371535.2:n.1026+42A>G
ENST00000503150.1:c.308+42A>G
ENST00000505513.1:n.326+42A>G
ENST00000514585.5:c.*727+42A>G ENSP00000421880.1:n.*727+42A>G
NM_016955.3:c.1026+42A>G NP_058651.3:n.1026+42A>G
XM_005248168.2:c.789+42A>G XP_005248225.1:n.789+42A>G
XM_006713965.2:c.846+42A>G XP_006714028.1:n.846+42A>G
XM_011513846.1:c.1023+42A>G XP_011512148.1:n.1023+42A>G
XM_011513847.1:c.993+42A>G XP_011512149.1:n.993+42A>G
XM_011513848.1:c.846+42A>G XP_011512150.1:n.846+42A>G
XM_011513846.2:c.1023+42A>G XP_011512148.1:n.1023+42A>G
XM_011513847.2:c.993+42A>G XP_011512149.1:n.993+42A>G
XM_017008277.1:c.1281+42A>G XP_016863766.1:n.1281+42A>G
XM_017008278.1:c.603+42A>G XP_016863767.1:n.603+42A>G
NM_016955.4:c.1026+42A>G MANE Select NP_058651.3:n.1026+42A>G