Canonical Allele Identifier: CA356876170

Gene: SGCB

Linked Data

• MyVariant Identifiers: chr4:g.52894232T>G (hg19) ; chr4:g.52028066T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52028066T>G , CM000666.2:g.52028066T>G	GRCh38
NC_000004.11:g.52894232T>G , CM000666.1:g.52894232T>G	GRCh37
NC_000004.10:g.52588989T>G	NCBI36
NG_008891.1:g.15254A>C , LRG_204:g.15254A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.655A>C MANE Select	ENSP00000370839.6:p.Lys219Gln
ENST00000381431.9:c.655A>C	ENSP00000370839.5:p.Lys219Gln
NM_000232.4:c.655A>C , LRG_204t1:c.655A>C	NP_000223.1:p.Lys219Gln
XM_006714049.2:c.358A>C	XP_006714112.1:p.Lys120Gln
XM_011534403.1:c.445A>C	XP_011532705.1:p.Lys149Gln
XM_011534404.1:c.358A>C	XP_011532706.1:p.Lys120Gln
NM_000232.5:c.655A>C MANE Select	NP_000223.1:p.Lys219Gln