Canonical Allele Identifier: CA796086888
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1446509267
gnomAD v3: 4-52027785-T-C
gnomAD v4: 4-52027785-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52027785T>C , CM000666.2:g.52027785T>C GRCh38
NC_000004.11:g.52893951T>C , CM000666.1:g.52893951T>C GRCh37
NC_000004.10:g.52588708T>C NCBI36
NG_008891.1:g.15535A>G , LRG_204:g.15535A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.753+183A>G MANE Select ENSP00000370839.6:n.753+183A>G
ENST00000381431.9:c.753+183A>G ENSP00000370839.5:n.753+183A>G
NM_000232.4:c.753+183A>G , LRG_204t1:c.753+183A>G NP_000223.1:n.753+183A>G
XM_006714049.2:c.456+183A>G XP_006714112.1:n.456+183A>G
XM_011534403.1:c.543+183A>G XP_011532705.1:n.543+183A>G
XM_011534404.1:c.456+183A>G XP_011532706.1:n.456+183A>G
NM_000232.5:c.753+183A>G MANE Select NP_000223.1:n.753+183A>G