Canonical Allele Identifier: CA356877125

Gene: SGCB

Linked Data

• MyVariant Identifiers: chr4:g.52895847C>A (hg19) ; chr4:g.52029681C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029681C>A , CM000666.2:g.52029681C>A	GRCh38
NC_000004.11:g.52895847C>A , CM000666.1:g.52895847C>A	GRCh37
NC_000004.10:g.52590604C>A	NCBI36
NG_008891.1:g.13639G>T , LRG_204:g.13639G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.426G>T MANE Select	ENSP00000370839.6:p.Gln142His
ENST00000381431.9:c.426G>T	ENSP00000370839.5:p.Gln142His
ENST00000506357.5:c.509G>T
ENST00000514133.1:c.503G>T	ENSP00000425818.1:n.503G>T
NM_000232.4:c.426G>T , LRG_204t1:c.426G>T	NP_000223.1:p.Gln142His
XM_006714049.2:c.129G>T	XP_006714112.1:p.Gln43His
XM_011534403.1:c.216G>T	XP_011532705.1:p.Gln72His
XM_011534404.1:c.129G>T	XP_011532706.1:p.Gln43His
NM_000232.5:c.426G>T MANE Select	NP_000223.1:p.Gln142His