Canonical Allele Identifier: CA1062454061
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1737444330
gnomAD v3: 4-52038071-G-A
gnomAD v4: 4-52038071-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038071G>A , CM000666.2:g.52038071G>A GRCh38
NC_000004.11:g.52904237G>A , CM000666.1:g.52904237G>A GRCh37
NC_000004.10:g.52598994G>A NCBI36
NG_008891.1:g.5249C>T , LRG_204:g.5249C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.33+156C>T MANE Select ENSP00000370839.6:n.33+156C>T
ENST00000381431.9:c.33+156C>T ENSP00000370839.5:n.33+156C>T
ENST00000506357.5:c.19+156C>T
NM_000232.4:c.33+156C>T , LRG_204t1:c.33+156C>T NP_000223.1:n.33+156C>T
XM_011534403.1:c.33+156C>T XP_011532705.1:n.33+156C>T
NM_000232.5:c.33+156C>T MANE Select NP_000223.1:n.33+156C>T
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