Canonical Allele Identifier: CA439274431
Gene: SGCB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.52896018A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52029852A>G , CM000666.2:g.52029852A>G GRCh38
NC_000004.11:g.52896018A>G , CM000666.1:g.52896018A>G GRCh37
NC_000004.10:g.52590775A>G NCBI36
NG_008891.1:g.13468T>C , LRG_204:g.13468T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.255T>C MANE Select ENSP00000370839.6:p.Val85=
ENST00000381431.9:c.255T>C ENSP00000370839.5:p.Val85=
ENST00000506357.5:c.338T>C
ENST00000514133.1:c.332T>C ENSP00000425818.1:n.332T>C
NM_000232.4:c.255T>C , LRG_204t1:c.255T>C NP_000223.1:p.Val85=
XM_006714049.2:c.-43T>C XP_006714112.1:n.-43T>C
XM_011534403.1:c.45T>C XP_011532705.1:p.Val15=
XM_011534404.1:c.-43T>C XP_011532706.1:n.-43T>C
NM_000232.5:c.255T>C MANE Select NP_000223.1:p.Val85=