Canonical Allele Identifier: CA356875737
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52027971C>G , CM000666.2:g.52027971C>G GRCh38
NC_000004.11:g.52894137C>G , CM000666.1:g.52894137C>G GRCh37
NC_000004.10:g.52588894C>G NCBI36
NG_008891.1:g.15349G>C , LRG_204:g.15349G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.750G>C MANE Select ENSP00000370839.6:p.Lys250Asn
ENST00000381431.9:c.750G>C ENSP00000370839.5:p.Lys250Asn
NM_000232.4:c.750G>C , LRG_204t1:c.750G>C NP_000223.1:p.Lys250Asn
XM_006714049.2:c.453G>C XP_006714112.1:p.Lys151Asn
XM_011534403.1:c.540G>C XP_011532705.1:p.Lys180Asn
XM_011534404.1:c.453G>C XP_011532706.1:p.Lys151Asn
NM_000232.5:c.750G>C MANE Select NP_000223.1:p.Lys250Asn