Canonical Allele Identifier: CA439274196
Gene: SGCB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.52895850G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52029684G>A , CM000666.2:g.52029684G>A GRCh38
NC_000004.11:g.52895850G>A , CM000666.1:g.52895850G>A GRCh37
NC_000004.10:g.52590607G>A NCBI36
NG_008891.1:g.13636C>T , LRG_204:g.13636C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.423C>T MANE Select ENSP00000370839.6:p.Asn141=
ENST00000381431.9:c.423C>T ENSP00000370839.5:p.Asn141=
ENST00000506357.5:c.506C>T
ENST00000514133.1:c.500C>T ENSP00000425818.1:n.500C>T
NM_000232.4:c.423C>T , LRG_204t1:c.423C>T NP_000223.1:p.Asn141=
XM_006714049.2:c.126C>T XP_006714112.1:p.Asn42=
XM_011534403.1:c.213C>T XP_011532705.1:p.Asn71=
XM_011534404.1:c.126C>T XP_011532706.1:p.Asn42=
NM_000232.5:c.423C>T MANE Select NP_000223.1:p.Asn141=