Canonical Allele Identifier: CA356877927

Gene: SGCB

Linked Data

• MyVariant Identifiers: chr4:g.52899669C>G (hg19) ; chr4:g.52033503C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033503C>G , CM000666.2:g.52033503C>G	GRCh38
NC_000004.11:g.52899669C>G , CM000666.1:g.52899669C>G	GRCh37
NC_000004.10:g.52594426C>G	NCBI36
NG_008891.1:g.9817G>C , LRG_204:g.9817G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.171G>C MANE Select	ENSP00000370839.6:p.Leu57Phe
ENST00000381431.9:c.171G>C	ENSP00000370839.5:p.Leu57Phe
ENST00000506357.5:c.157G>C
ENST00000514133.1:c.138G>C	ENSP00000425818.1:p.Leu46Phe
NM_000232.4:c.171G>C , LRG_204t1:c.171G>C	NP_000223.1:p.Leu57Phe
XM_006714049.2:c.-237G>C	XP_006714112.1:n.-237G>C
XM_011534403.1:c.34-3640G>C	XP_011532705.1:n.34-3640G>C
XM_011534404.1:c.-214G>C	XP_011532706.1:n.-214G>C
NM_000232.5:c.171G>C MANE Select	NP_000223.1:p.Leu57Phe