Canonical Allele Identifier: CA356877135

Gene: SGCB

Linked Data

• dbSNP Id: rs752109221
• gnomAD v2: 4-52895851-T-C
• gnomAD v4: 4-52029685-T-C
• MyVariant Identifiers: chr4:g.52895851T>C (hg19) ; chr4:g.52029685T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029685T>C , CM000666.2:g.52029685T>C	GRCh38
NC_000004.11:g.52895851T>C , CM000666.1:g.52895851T>C	GRCh37
NC_000004.10:g.52590608T>C	NCBI36
NG_008891.1:g.13635A>G , LRG_204:g.13635A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.422A>G MANE Select	ENSP00000370839.6:p.Asn141Ser
ENST00000381431.9:c.422A>G	ENSP00000370839.5:p.Asn141Ser
ENST00000506357.5:c.505A>G
ENST00000514133.1:c.499A>G	ENSP00000425818.1:n.499A>G
NM_000232.4:c.422A>G , LRG_204t1:c.422A>G	NP_000223.1:p.Asn141Ser
XM_006714049.2:c.125A>G	XP_006714112.1:p.Asn42Ser
XM_011534403.1:c.212A>G	XP_011532705.1:p.Asn71Ser
XM_011534404.1:c.125A>G	XP_011532706.1:p.Asn42Ser
NM_000232.5:c.422A>G MANE Select	NP_000223.1:p.Asn141Ser