Canonical Allele Identifier: CA356877123

Gene: SGCB

Linked Data

• gnomAD v4: 4-52029680-G-T
• MyVariant Identifiers: chr4:g.52895846G>T (hg19) ; chr4:g.52029680G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029680G>T , CM000666.2:g.52029680G>T	GRCh38
NC_000004.11:g.52895846G>T , CM000666.1:g.52895846G>T	GRCh37
NC_000004.10:g.52590603G>T	NCBI36
NG_008891.1:g.13640C>A , LRG_204:g.13640C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.427C>A MANE Select	ENSP00000370839.6:p.Pro143Thr
ENST00000381431.9:c.427C>A	ENSP00000370839.5:p.Pro143Thr
ENST00000506357.5:c.510C>A
ENST00000514133.1:c.504C>A	ENSP00000425818.1:n.504C>A
NM_000232.4:c.427C>A , LRG_204t1:c.427C>A	NP_000223.1:p.Pro143Thr
XM_006714049.2:c.130C>A	XP_006714112.1:p.Pro44Thr
XM_011534403.1:c.217C>A	XP_011532705.1:p.Pro73Thr
XM_011534404.1:c.130C>A	XP_011532706.1:p.Pro44Thr
NM_000232.5:c.427C>A MANE Select	NP_000223.1:p.Pro143Thr