Canonical Allele Identifier: CA439274694

Gene: SGCB

Linked Data

• gnomAD v4: 4-52033464-G-A
• MyVariant Identifiers: chr4:g.52899630G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033464G>A , CM000666.2:g.52033464G>A	GRCh38
NC_000004.11:g.52899630G>A , CM000666.1:g.52899630G>A	GRCh37
NC_000004.10:g.52594387G>A	NCBI36
NG_008891.1:g.9856C>T , LRG_204:g.9856C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.210C>T MANE Select	ENSP00000370839.6:p.Ile70=
ENST00000381431.9:c.210C>T	ENSP00000370839.5:p.Ile70=
ENST00000506357.5:c.196C>T
ENST00000514133.1:c.177C>T	ENSP00000425818.1:p.Ile59=
NM_000232.4:c.210C>T , LRG_204t1:c.210C>T	NP_000223.1:p.Ile70=
XM_006714049.2:c.-198C>T	XP_006714112.1:n.-198C>T
XM_011534403.1:c.34-3601C>T	XP_011532705.1:n.34-3601C>T
XM_011534404.1:c.-175C>T	XP_011532706.1:n.-175C>T
NM_000232.5:c.210C>T MANE Select	NP_000223.1:p.Ile70=