Canonical Allele Identifier: CA439273804
Gene: SGCB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.52894233T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028067T>G , CM000666.2:g.52028067T>G GRCh38
NC_000004.11:g.52894233T>G , CM000666.1:g.52894233T>G GRCh37
NC_000004.10:g.52588990T>G NCBI36
NG_008891.1:g.15253A>C , LRG_204:g.15253A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.654A>C MANE Select ENSP00000370839.6:p.Ile218=
ENST00000381431.9:c.654A>C ENSP00000370839.5:p.Ile218=
NM_000232.4:c.654A>C , LRG_204t1:c.654A>C NP_000223.1:p.Ile218=
XM_006714049.2:c.357A>C XP_006714112.1:p.Ile119=
XM_011534403.1:c.444A>C XP_011532705.1:p.Ile148=
XM_011534404.1:c.357A>C XP_011532706.1:p.Ile119=
NM_000232.5:c.654A>C MANE Select NP_000223.1:p.Ile218=