Canonical Allele Identifier: CA439274743
Gene: SGCB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.52899666T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033500T>C , CM000666.2:g.52033500T>C GRCh38
NC_000004.11:g.52899666T>C , CM000666.1:g.52899666T>C GRCh37
NC_000004.10:g.52594423T>C NCBI36
NG_008891.1:g.9820A>G , LRG_204:g.9820A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.174A>G MANE Select ENSP00000370839.6:p.Arg58=
ENST00000381431.9:c.174A>G ENSP00000370839.5:p.Arg58=
ENST00000506357.5:c.160A>G
ENST00000514133.1:c.141A>G ENSP00000425818.1:p.Arg47=
NM_000232.4:c.174A>G , LRG_204t1:c.174A>G NP_000223.1:p.Arg58=
XM_006714049.2:c.-234A>G XP_006714112.1:n.-234A>G
XM_011534403.1:c.34-3637A>G XP_011532705.1:n.34-3637A>G
XM_011534404.1:c.-211A>G XP_011532706.1:n.-211A>G
NM_000232.5:c.174A>G MANE Select NP_000223.1:p.Arg58=