Canonical Allele Identifier: CA356877311

Gene: SGCB

Linked Data

• MyVariant Identifiers: chr4:g.52895937T>G (hg19) ; chr4:g.52029771T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029771T>G , CM000666.2:g.52029771T>G	GRCh38
NC_000004.11:g.52895937T>G , CM000666.1:g.52895937T>G	GRCh37
NC_000004.10:g.52590694T>G	NCBI36
NG_008891.1:g.13549A>C , LRG_204:g.13549A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.336A>C MANE Select	ENSP00000370839.6:p.Gln112His
ENST00000381431.9:c.336A>C	ENSP00000370839.5:p.Gln112His
ENST00000506357.5:c.419A>C
ENST00000514133.1:c.413A>C	ENSP00000425818.1:n.413A>C
NM_000232.4:c.336A>C , LRG_204t1:c.336A>C	NP_000223.1:p.Gln112His
XM_006714049.2:c.39A>C	XP_006714112.1:p.Gln13His
XM_011534403.1:c.126A>C	XP_011532705.1:p.Gln42His
XM_011534404.1:c.39A>C	XP_011532706.1:p.Gln13His
NM_000232.5:c.336A>C MANE Select	NP_000223.1:p.Gln112His