Canonical Allele Identifier: CA439273750
Gene: SGCB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.52894197T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028031T>C , CM000666.2:g.52028031T>C GRCh38
NC_000004.11:g.52894197T>C , CM000666.1:g.52894197T>C GRCh37
NC_000004.10:g.52588954T>C NCBI36
NG_008891.1:g.15289A>G , LRG_204:g.15289A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.690A>G MANE Select ENSP00000370839.6:p.Glu230=
ENST00000381431.9:c.690A>G ENSP00000370839.5:p.Glu230=
NM_000232.4:c.690A>G , LRG_204t1:c.690A>G NP_000223.1:p.Glu230=
XM_006714049.2:c.393A>G XP_006714112.1:p.Glu131=
XM_011534403.1:c.480A>G XP_011532705.1:p.Glu160=
XM_011534404.1:c.393A>G XP_011532706.1:p.Glu131=
NM_000232.5:c.690A>G MANE Select NP_000223.1:p.Glu230=