Canonical Allele Identifier: CA2670614452
Gene: SGCB HGNC NCBI

Linked Data

gnomAD v4: 4-52038138-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038138C>T , CM000666.2:g.52038138C>T GRCh38
NC_000004.11:g.52904304C>T , CM000666.1:g.52904304C>T GRCh37
NC_000004.10:g.52599061C>T NCBI36
NG_008891.1:g.5182G>A , LRG_204:g.5182G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.33+89G>A MANE Select ENSP00000370839.6:n.33+89G>A
ENST00000381431.9:c.33+89G>A ENSP00000370839.5:n.33+89G>A
ENST00000506357.5:c.19+89G>A
NM_000232.4:c.33+89G>A , LRG_204t1:c.33+89G>A NP_000223.1:n.33+89G>A
XM_011534403.1:c.33+89G>A XP_011532705.1:n.33+89G>A
NM_000232.5:c.33+89G>A MANE Select NP_000223.1:n.33+89G>A
Search 100 bp 5'
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