Canonical Allele Identifier: CA356878719

Gene: SGCB

Linked Data

• gnomAD v4: 4-52038255-G-T
• MyVariant Identifiers: chr4:g.52904421G>T (hg19) ; chr4:g.52038255G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52038255G>T , CM000666.2:g.52038255G>T	GRCh38
NC_000004.11:g.52904421G>T , CM000666.1:g.52904421G>T	GRCh37
NC_000004.10:g.52599178G>T	NCBI36
NG_008891.1:g.5065C>A , LRG_204:g.5065C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.5C>A MANE Select	ENSP00000370839.6:p.Ala2Glu
ENST00000381431.9:c.5C>A	ENSP00000370839.5:p.Ala2Glu
NM_000232.4:c.5C>A , LRG_204t1:c.5C>A	NP_000223.1:p.Ala2Glu
XM_011534403.1:c.5C>A	XP_011532705.1:p.Ala2Glu
NM_000232.5:c.5C>A MANE Select	NP_000223.1:p.Ala2Glu