Canonical Allele Identifier: CA356877487

Gene: SGCB

Linked Data

• MyVariant Identifiers: chr4:g.52895999T>A (hg19) ; chr4:g.52029833T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029833T>A , CM000666.2:g.52029833T>A	GRCh38
NC_000004.11:g.52895999T>A , CM000666.1:g.52895999T>A	GRCh37
NC_000004.10:g.52590756T>A	NCBI36
NG_008891.1:g.13487A>T , LRG_204:g.13487A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.274A>T MANE Select	ENSP00000370839.6:p.Ile92Phe
ENST00000381431.9:c.274A>T	ENSP00000370839.5:p.Ile92Phe
ENST00000506357.5:c.357A>T
ENST00000514133.1:c.351A>T	ENSP00000425818.1:n.351A>T
NM_000232.4:c.274A>T , LRG_204t1:c.274A>T	NP_000223.1:p.Ile92Phe
XM_006714049.2:c.-24A>T	XP_006714112.1:n.-24A>T
XM_011534403.1:c.64A>T	XP_011532705.1:p.Ile22Phe
XM_011534404.1:c.-24A>T	XP_011532706.1:n.-24A>T
NM_000232.5:c.274A>T MANE Select	NP_000223.1:p.Ile92Phe