Canonical Allele Identifier: CA439274748
Gene: SGCB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.52899669C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033503C>T , CM000666.2:g.52033503C>T GRCh38
NC_000004.11:g.52899669C>T , CM000666.1:g.52899669C>T GRCh37
NC_000004.10:g.52594426C>T NCBI36
NG_008891.1:g.9817G>A , LRG_204:g.9817G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.171G>A MANE Select ENSP00000370839.6:p.Leu57=
ENST00000381431.9:c.171G>A ENSP00000370839.5:p.Leu57=
ENST00000506357.5:c.157G>A
ENST00000514133.1:c.138G>A ENSP00000425818.1:p.Leu46=
NM_000232.4:c.171G>A , LRG_204t1:c.171G>A NP_000223.1:p.Leu57=
XM_006714049.2:c.-237G>A XP_006714112.1:n.-237G>A
XM_011534403.1:c.34-3640G>A XP_011532705.1:n.34-3640G>A
XM_011534404.1:c.-214G>A XP_011532706.1:n.-214G>A
NM_000232.5:c.171G>A MANE Select NP_000223.1:p.Leu57=