Canonical Allele Identifier: CA796085879
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1318192018
MyVariant Identifiers: chr4:g.52904196T>G (hg19) chr4:g.52038030T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038030T>G , CM000666.2:g.52038030T>G GRCh38
NC_000004.11:g.52904196T>G , CM000666.1:g.52904196T>G GRCh37
NC_000004.10:g.52598953T>G NCBI36
NG_008891.1:g.5290A>C , LRG_204:g.5290A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.33+197A>C MANE Select ENSP00000370839.6:n.33+197A>C
ENST00000381431.9:c.33+197A>C ENSP00000370839.5:n.33+197A>C
ENST00000506357.5:c.19+197A>C
NM_000232.4:c.33+197A>C , LRG_204t1:c.33+197A>C NP_000223.1:n.33+197A>C
XM_011534403.1:c.33+197A>C XP_011532705.1:n.33+197A>C
NM_000232.5:c.33+197A>C MANE Select NP_000223.1:n.33+197A>C
Search 100 bp 5'
Search 100 bp 3'