Canonical Allele Identifier: CA439273644
Gene: SGCB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.52894170A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028004A>G , CM000666.2:g.52028004A>G GRCh38
NC_000004.11:g.52894170A>G , CM000666.1:g.52894170A>G GRCh37
NC_000004.10:g.52588927A>G NCBI36
NG_008891.1:g.15316T>C , LRG_204:g.15316T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.717T>C MANE Select ENSP00000370839.6:p.Ile239=
ENST00000381431.9:c.717T>C ENSP00000370839.5:p.Ile239=
NM_000232.4:c.717T>C , LRG_204t1:c.717T>C NP_000223.1:p.Ile239=
XM_006714049.2:c.420T>C XP_006714112.1:p.Ile140=
XM_011534403.1:c.507T>C XP_011532705.1:p.Ile169=
XM_011534404.1:c.420T>C XP_011532706.1:p.Ile140=
NM_000232.5:c.717T>C MANE Select NP_000223.1:p.Ile239=