Canonical Allele Identifier: CA356877962

Gene: SGCB

Linked Data

• MyVariant Identifiers: chr4:g.52899686G>A (hg19) ; chr4:g.52033520G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033520G>A , CM000666.2:g.52033520G>A	GRCh38
NC_000004.11:g.52899686G>A , CM000666.1:g.52899686G>A	GRCh37
NC_000004.10:g.52594443G>A	NCBI36
NG_008891.1:g.9800C>T , LRG_204:g.9800C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.154C>T MANE Select	ENSP00000370839.6:p.Leu52Phe
ENST00000381431.9:c.154C>T	ENSP00000370839.5:p.Leu52Phe
ENST00000506357.5:c.140C>T
ENST00000514133.1:c.121C>T	ENSP00000425818.1:p.Leu41Phe
NM_000232.4:c.154C>T , LRG_204t1:c.154C>T	NP_000223.1:p.Leu52Phe
XM_006714049.2:c.-254C>T	XP_006714112.1:n.-254C>T
XM_011534403.1:c.34-3657C>T	XP_011532705.1:n.34-3657C>T
XM_011534404.1:c.-231C>T	XP_011532706.1:n.-231C>T
NM_000232.5:c.154C>T MANE Select	NP_000223.1:p.Leu52Phe