Canonical Allele Identifier: CA356876216
Gene: SGCB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.52894241A>C (hg19) chr4:g.52028075A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028075A>C , CM000666.2:g.52028075A>C GRCh38
NC_000004.11:g.52894241A>C , CM000666.1:g.52894241A>C GRCh37
NC_000004.10:g.52588998A>C NCBI36
NG_008891.1:g.15245T>G , LRG_204:g.15245T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.646T>G MANE Select ENSP00000370839.6:p.Leu216Val
ENST00000381431.9:c.646T>G ENSP00000370839.5:p.Leu216Val
NM_000232.4:c.646T>G , LRG_204t1:c.646T>G NP_000223.1:p.Leu216Val
XM_006714049.2:c.349T>G XP_006714112.1:p.Leu117Val
XM_011534403.1:c.436T>G XP_011532705.1:p.Leu146Val
XM_011534404.1:c.349T>G XP_011532706.1:p.Leu117Val
NM_000232.5:c.646T>G MANE Select NP_000223.1:p.Leu216Val
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