Canonical Allele Identifier: CA2670614506
Gene: SGCB HGNC NCBI

Linked Data

gnomAD v4: 4-52038172-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038172C>G , CM000666.2:g.52038172C>G GRCh38
NC_000004.11:g.52904338C>G , CM000666.1:g.52904338C>G GRCh37
NC_000004.10:g.52599095C>G NCBI36
NG_008891.1:g.5148G>C , LRG_204:g.5148G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.33+55G>C MANE Select ENSP00000370839.6:n.33+55G>C
ENST00000381431.9:c.33+55G>C ENSP00000370839.5:n.33+55G>C
ENST00000506357.5:c.19+55G>C
NM_000232.4:c.33+55G>C , LRG_204t1:c.33+55G>C NP_000223.1:n.33+55G>C
XM_011534403.1:c.33+55G>C XP_011532705.1:n.33+55G>C
NM_000232.5:c.33+55G>C MANE Select NP_000223.1:n.33+55G>C
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