Canonical Allele Identifier: CA356877801

Gene: SGCB

Linked Data

• MyVariant Identifiers: chr4:g.52899611C>A (hg19) ; chr4:g.52033445C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033445C>A , CM000666.2:g.52033445C>A	GRCh38
NC_000004.11:g.52899611C>A , CM000666.1:g.52899611C>A	GRCh37
NC_000004.10:g.52594368C>A	NCBI36
NG_008891.1:g.9875G>T , LRG_204:g.9875G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.229G>T MANE Select	ENSP00000370839.6:p.Val77Phe
ENST00000381431.9:c.229G>T	ENSP00000370839.5:p.Val77Phe
ENST00000506357.5:c.215G>T
ENST00000514133.1:c.196G>T	ENSP00000425818.1:p.Val66Phe
NM_000232.4:c.229G>T , LRG_204t1:c.229G>T	NP_000223.1:p.Val77Phe
XM_006714049.2:c.-179G>T	XP_006714112.1:n.-179G>T
XM_011534403.1:c.34-3582G>T	XP_011532705.1:n.34-3582G>T
XM_011534404.1:c.-156G>T	XP_011532706.1:n.-156G>T
NM_000232.5:c.229G>T MANE Select	NP_000223.1:p.Val77Phe