Canonical Allele Identifier: CA356877327

Gene: SGCB

Linked Data

• MyVariant Identifiers: chr4:g.52895943A>T (hg19) ; chr4:g.52029777A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029777A>T , CM000666.2:g.52029777A>T	GRCh38
NC_000004.11:g.52895943A>T , CM000666.1:g.52895943A>T	GRCh37
NC_000004.10:g.52590700A>T	NCBI36
NG_008891.1:g.13543T>A , LRG_204:g.13543T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.330T>A MANE Select	ENSP00000370839.6:p.Phe110Leu
ENST00000381431.9:c.330T>A	ENSP00000370839.5:p.Phe110Leu
ENST00000506357.5:c.413T>A
ENST00000514133.1:c.407T>A	ENSP00000425818.1:n.407T>A
NM_000232.4:c.330T>A , LRG_204t1:c.330T>A	NP_000223.1:p.Phe110Leu
XM_006714049.2:c.33T>A	XP_006714112.1:p.Phe11Leu
XM_011534403.1:c.120T>A	XP_011532705.1:p.Phe40Leu
XM_011534404.1:c.33T>A	XP_011532706.1:p.Phe11Leu
NM_000232.5:c.330T>A MANE Select	NP_000223.1:p.Phe110Leu