Canonical Allele Identifier: CA1062469267
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1737140552
gnomAD v3: 4-52027842-T-G
gnomAD v4: 4-52027842-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52027842T>G , CM000666.2:g.52027842T>G GRCh38
NC_000004.11:g.52894008T>G , CM000666.1:g.52894008T>G GRCh37
NC_000004.10:g.52588765T>G NCBI36
NG_008891.1:g.15478A>C , LRG_204:g.15478A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.753+126A>C MANE Select ENSP00000370839.6:n.753+126A>C
ENST00000381431.9:c.753+126A>C ENSP00000370839.5:n.753+126A>C
NM_000232.4:c.753+126A>C , LRG_204t1:c.753+126A>C NP_000223.1:n.753+126A>C
XM_006714049.2:c.456+126A>C XP_006714112.1:n.456+126A>C
XM_011534403.1:c.543+126A>C XP_011532705.1:n.543+126A>C
XM_011534404.1:c.456+126A>C XP_011532706.1:n.456+126A>C
NM_000232.5:c.753+126A>C MANE Select NP_000223.1:n.753+126A>C
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