Canonical Allele Identifier: CA439273775
Gene: SGCB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.52894218A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028052A>C , CM000666.2:g.52028052A>C GRCh38
NC_000004.11:g.52894218A>C , CM000666.1:g.52894218A>C GRCh37
NC_000004.10:g.52588975A>C NCBI36
NG_008891.1:g.15268T>G , LRG_204:g.15268T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.669T>G MANE Select ENSP00000370839.6:p.Arg223=
ENST00000381431.9:c.669T>G ENSP00000370839.5:p.Arg223=
NM_000232.4:c.669T>G , LRG_204t1:c.669T>G NP_000223.1:p.Arg223=
XM_006714049.2:c.372T>G XP_006714112.1:p.Arg124=
XM_011534403.1:c.459T>G XP_011532705.1:p.Arg153=
XM_011534404.1:c.372T>G XP_011532706.1:p.Arg124=
NM_000232.5:c.669T>G MANE Select NP_000223.1:p.Arg223=