Canonical Allele Identifier: CA356877124
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52029680G>A , CM000666.2:g.52029680G>A GRCh38
NC_000004.11:g.52895846G>A , CM000666.1:g.52895846G>A GRCh37
NC_000004.10:g.52590603G>A NCBI36
NG_008891.1:g.13640C>T , LRG_204:g.13640C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.427C>T MANE Select ENSP00000370839.6:p.Pro143Ser
ENST00000381431.9:c.427C>T ENSP00000370839.5:p.Pro143Ser
ENST00000506357.5:c.510C>T
ENST00000514133.1:c.504C>T ENSP00000425818.1:n.504C>T
NM_000232.4:c.427C>T , LRG_204t1:c.427C>T NP_000223.1:p.Pro143Ser
XM_006714049.2:c.130C>T XP_006714112.1:p.Pro44Ser
XM_011534403.1:c.217C>T XP_011532705.1:p.Pro73Ser
XM_011534404.1:c.130C>T XP_011532706.1:p.Pro44Ser
NM_000232.5:c.427C>T MANE Select NP_000223.1:p.Pro143Ser