Canonical Allele Identifier: CA551340752
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1175547318
gnomAD v2: 4-52894333-G-T
gnomAD v3: 4-52028167-G-T
gnomAD v4: 4-52028167-G-T
MyVariant Identifiers: chr4:g.52894333G>T (hg19) chr4:g.52028167G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028167G>T , CM000666.2:g.52028167G>T GRCh38
NC_000004.11:g.52894333G>T , CM000666.1:g.52894333G>T GRCh37
NC_000004.10:g.52589090G>T NCBI36
NG_008891.1:g.15153C>A , LRG_204:g.15153C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.622-68C>A MANE Select ENSP00000370839.6:n.622-68C>A
ENST00000381431.9:c.622-68C>A ENSP00000370839.5:n.622-68C>A
NM_000232.4:c.622-68C>A , LRG_204t1:c.622-68C>A NP_000223.1:n.622-68C>A
XM_006714049.2:c.325-68C>A XP_006714112.1:n.325-68C>A
XM_011534403.1:c.412-68C>A XP_011532705.1:n.412-68C>A
XM_011534404.1:c.325-68C>A XP_011532706.1:n.325-68C>A
NM_000232.5:c.622-68C>A MANE Select NP_000223.1:n.622-68C>A
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