Canonical Allele Identifier: CA439274437
Gene: SGCB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.52896027T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52029861T>A , CM000666.2:g.52029861T>A GRCh38
NC_000004.11:g.52896027T>A , CM000666.1:g.52896027T>A GRCh37
NC_000004.10:g.52590784T>A NCBI36
NG_008891.1:g.13459A>T , LRG_204:g.13459A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.246A>T MANE Select ENSP00000370839.6:p.Ile82=
ENST00000381431.9:c.246A>T ENSP00000370839.5:p.Ile82=
ENST00000506357.5:c.329A>T
ENST00000514133.1:c.323A>T ENSP00000425818.1:n.323A>T
NM_000232.4:c.246A>T , LRG_204t1:c.246A>T NP_000223.1:p.Ile82=
XM_006714049.2:c.-52A>T XP_006714112.1:n.-52A>T
XM_011534403.1:c.36A>T XP_011532705.1:p.Ile12=
XM_011534404.1:c.-52A>T XP_011532706.1:n.-52A>T
NM_000232.5:c.246A>T MANE Select NP_000223.1:p.Ile82=