Canonical Allele Identifier: CA356875812

Gene: SGCB

Linked Data

• gnomAD v4: 4-52028002-T-G
• MyVariant Identifiers: chr4:g.52894168T>G (hg19) ; chr4:g.52028002T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52028002T>G , CM000666.2:g.52028002T>G	GRCh38
NC_000004.11:g.52894168T>G , CM000666.1:g.52894168T>G	GRCh37
NC_000004.10:g.52588925T>G	NCBI36
NG_008891.1:g.15318A>C , LRG_204:g.15318A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.719A>C MANE Select	ENSP00000370839.6:p.Glu240Ala
ENST00000381431.9:c.719A>C	ENSP00000370839.5:p.Glu240Ala
NM_000232.4:c.719A>C , LRG_204t1:c.719A>C	NP_000223.1:p.Glu240Ala
XM_006714049.2:c.422A>C	XP_006714112.1:p.Glu141Ala
XM_011534403.1:c.509A>C	XP_011532705.1:p.Glu170Ala
XM_011534404.1:c.422A>C	XP_011532706.1:p.Glu141Ala
NM_000232.5:c.719A>C MANE Select	NP_000223.1:p.Glu240Ala