Canonical Allele Identifier: CA356876231
Gene: SGCB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.52894244C>T (hg19) chr4:g.52028078C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028078C>T , CM000666.2:g.52028078C>T GRCh38
NC_000004.11:g.52894244C>T , CM000666.1:g.52894244C>T GRCh37
NC_000004.10:g.52589001C>T NCBI36
NG_008891.1:g.15242G>A , LRG_204:g.15242G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.643G>A MANE Select ENSP00000370839.6:p.Asp215Asn
ENST00000381431.9:c.643G>A ENSP00000370839.5:p.Asp215Asn
NM_000232.4:c.643G>A , LRG_204t1:c.643G>A NP_000223.1:p.Asp215Asn
XM_006714049.2:c.346G>A XP_006714112.1:p.Asp116Asn
XM_011534403.1:c.433G>A XP_011532705.1:p.Asp145Asn
XM_011534404.1:c.346G>A XP_011532706.1:p.Asp116Asn
NM_000232.5:c.643G>A MANE Select NP_000223.1:p.Asp215Asn
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