Canonical Allele Identifier: CA2918331

Gene: SGCB

Linked Data

• dbSNP Id: rs746673205
• ExAC: 4:52894254 A / T
• gnomAD v2: 4-52894254-A-T
• gnomAD v3: 4-52028088-A-T
• gnomAD v4: 4-52028088-A-T
• MyVariant Identifiers: chr4:g.52894254A>T (hg19) ; chr4:g.52028088A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52028088A>T , CM000666.2:g.52028088A>T	GRCh38
NC_000004.11:g.52894254A>T , CM000666.1:g.52894254A>T	GRCh37
NC_000004.10:g.52589011A>T	NCBI36
NG_008891.1:g.15232T>A , LRG_204:g.15232T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.633T>A MANE Select	ENSP00000370839.6:p.Asn211Lys
ENST00000381431.9:c.633T>A	ENSP00000370839.5:p.Asn211Lys
NM_000232.4:c.633T>A , LRG_204t1:c.633T>A	NP_000223.1:p.Asn211Lys
XM_006714049.2:c.336T>A	XP_006714112.1:p.Asn112Lys
XM_011534403.1:c.423T>A	XP_011532705.1:p.Asn141Lys
XM_011534404.1:c.336T>A	XP_011532706.1:p.Asn112Lys
NM_000232.5:c.633T>A MANE Select	NP_000223.1:p.Asn211Lys