Canonical Allele Identifier: CA1062454214
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs2109380528
gnomAD v3: 4-52038096-A-C
gnomAD v4: 4-52038096-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038096A>C , CM000666.2:g.52038096A>C GRCh38
NC_000004.11:g.52904262A>C , CM000666.1:g.52904262A>C GRCh37
NC_000004.10:g.52599019A>C NCBI36
NG_008891.1:g.5224T>G , LRG_204:g.5224T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.33+131T>G MANE Select ENSP00000370839.6:n.33+131T>G
ENST00000381431.9:c.33+131T>G ENSP00000370839.5:n.33+131T>G
ENST00000506357.5:c.19+131T>G
NM_000232.4:c.33+131T>G , LRG_204t1:c.33+131T>G NP_000223.1:n.33+131T>G
XM_011534403.1:c.33+131T>G XP_011532705.1:n.33+131T>G
NM_000232.5:c.33+131T>G MANE Select NP_000223.1:n.33+131T>G
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