Canonical Allele Identifier: CA2670599112

Gene: SGCB

Linked Data

• gnomAD v4: 4-52029634-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029634C>A , CM000666.2:g.52029634C>A	GRCh38
NC_000004.11:g.52895800C>A , CM000666.1:g.52895800C>A	GRCh37
NC_000004.10:g.52590557C>A	NCBI36
NG_008891.1:g.13686G>T , LRG_204:g.13686G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.429+44G>T MANE Select	ENSP00000370839.6:n.429+44G>T
ENST00000381431.9:c.429+44G>T	ENSP00000370839.5:n.429+44G>T
ENST00000506357.5:c.512+44G>T
ENST00000514133.1:c.506+44G>T	ENSP00000425818.1:n.506+44G>T
NM_000232.4:c.429+44G>T , LRG_204t1:c.429+44G>T	NP_000223.1:n.429+44G>T
XM_006714049.2:c.132+44G>T	XP_006714112.1:n.132+44G>T
XM_011534403.1:c.219+44G>T	XP_011532705.1:n.219+44G>T
XM_011534404.1:c.132+44G>T	XP_011532706.1:n.132+44G>T
NM_000232.5:c.429+44G>T MANE Select	NP_000223.1:n.429+44G>T