Canonical Allele Identifier: CA356875808
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1737146519
MyVariant Identifiers: chr4:g.52894166A>T (hg19) chr4:g.52028000A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028000A>T , CM000666.2:g.52028000A>T GRCh38
NC_000004.11:g.52894166A>T , CM000666.1:g.52894166A>T GRCh37
NC_000004.10:g.52588923A>T NCBI36
NG_008891.1:g.15320T>A , LRG_204:g.15320T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.721T>A MANE Select ENSP00000370839.6:p.Phe241Ile
ENST00000381431.9:c.721T>A ENSP00000370839.5:p.Phe241Ile
NM_000232.4:c.721T>A , LRG_204t1:c.721T>A NP_000223.1:p.Phe241Ile
XM_006714049.2:c.424T>A XP_006714112.1:p.Phe142Ile
XM_011534403.1:c.511T>A XP_011532705.1:p.Phe171Ile
XM_011534404.1:c.424T>A XP_011532706.1:p.Phe142Ile
NM_000232.5:c.721T>A MANE Select NP_000223.1:p.Phe241Ile
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