Canonical Allele Identifier: CA356876825

Gene: SGCB

Linked Data

• MyVariant Identifiers: chr4:g.52894970C>G (hg19) ; chr4:g.52028804C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52028804C>G , CM000666.2:g.52028804C>G	GRCh38
NC_000004.11:g.52894970C>G , CM000666.1:g.52894970C>G	GRCh37
NC_000004.10:g.52589727C>G	NCBI36
NG_008891.1:g.14516G>C , LRG_204:g.14516G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.547G>C MANE Select	ENSP00000370839.6:p.Asp183His
ENST00000381431.9:c.547G>C	ENSP00000370839.5:p.Asp183His
ENST00000506357.5:c.630G>C
NM_000232.4:c.547G>C , LRG_204t1:c.547G>C	NP_000223.1:p.Asp183His
XM_006714049.2:c.250G>C	XP_006714112.1:p.Asp84His
XM_011534403.1:c.337G>C	XP_011532705.1:p.Asp113His
XM_011534404.1:c.250G>C	XP_011532706.1:p.Asp84His
NM_000232.5:c.547G>C MANE Select	NP_000223.1:p.Asp183His