Canonical Allele Identifier: CA356877115

Gene: SGCB

Linked Data

• gnomAD v4: 4-52029676-A-T
• MyVariant Identifiers: chr4:g.52895842A>T (hg19) ; chr4:g.52029676A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029676A>T , CM000666.2:g.52029676A>T	GRCh38
NC_000004.11:g.52895842A>T , CM000666.1:g.52895842A>T	GRCh37
NC_000004.10:g.52590599A>T	NCBI36
NG_008891.1:g.13644T>A , LRG_204:g.13644T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.429+2T>A MANE Select	ENSP00000370839.6:n.429+2T>A
ENST00000381431.9:c.429+2T>A	ENSP00000370839.5:n.429+2T>A
ENST00000506357.5:c.512+2T>A
ENST00000514133.1:c.506+2T>A	ENSP00000425818.1:n.506+2T>A
NM_000232.4:c.429+2T>A , LRG_204t1:c.429+2T>A	NP_000223.1:n.429+2T>A
XM_006714049.2:c.132+2T>A	XP_006714112.1:n.132+2T>A
XM_011534403.1:c.219+2T>A	XP_011532705.1:n.219+2T>A
XM_011534404.1:c.132+2T>A	XP_011532706.1:n.132+2T>A
NM_000232.5:c.429+2T>A MANE Select	NP_000223.1:n.429+2T>A