Canonical Allele Identifier: CA220521

Gene: SGCB

Linked Data

• ClinVar Variation Id: 92661
• ClinVar RCV Id: RCV000078412 ; RCV000302292 ; RCV000405910 ; RCV001085043 ; RCV001293238
• dbSNP Id: rs398123263
• ExAC: 4:52895905 T / G
• gnomAD v2: 4-52895905-T-G
• gnomAD v3: 4-52029739-T-G
• gnomAD v4: 4-52029739-T-G
• MyVariant Identifiers: chr4:g.52895905T>G (hg19) ; chr4:g.52029739T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029739T>G , CM000666.2:g.52029739T>G	GRCh38
NC_000004.11:g.52895905T>G , CM000666.1:g.52895905T>G	GRCh37
NC_000004.10:g.52590662T>G	NCBI36
NG_008891.1:g.13581A>C , LRG_204:g.13581A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.368A>C MANE Select	ENSP00000370839.6:p.Tyr123Ser
ENST00000381431.9:c.368A>C	ENSP00000370839.5:p.Tyr123Ser
ENST00000506357.5:c.451A>C
ENST00000514133.1:c.445A>C	ENSP00000425818.1:n.445A>C
NM_000232.4:c.368A>C , LRG_204t1:c.368A>C	NP_000223.1:p.Tyr123Ser
XM_006714049.2:c.71A>C	XP_006714112.1:p.Tyr24Ser
XM_011534403.1:c.158A>C	XP_011532705.1:p.Tyr53Ser
XM_011534404.1:c.71A>C	XP_011532706.1:p.Tyr24Ser
NM_000232.5:c.368A>C MANE Select	NP_000223.1:p.Tyr123Ser