Canonical Allele Identifier: CA356877304
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52029769A>T , CM000666.2:g.52029769A>T GRCh38
NC_000004.11:g.52895935A>T , CM000666.1:g.52895935A>T GRCh37
NC_000004.10:g.52590692A>T NCBI36
NG_008891.1:g.13551T>A , LRG_204:g.13551T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.338T>A MANE Select ENSP00000370839.6:p.Val113Glu
ENST00000381431.9:c.338T>A ENSP00000370839.5:p.Val113Glu
ENST00000506357.5:c.421T>A
ENST00000514133.1:c.415T>A ENSP00000425818.1:n.415T>A
NM_000232.4:c.338T>A , LRG_204t1:c.338T>A NP_000223.1:p.Val113Glu
XM_006714049.2:c.41T>A XP_006714112.1:p.Val14Glu
XM_011534403.1:c.128T>A XP_011532705.1:p.Val43Glu
XM_011534404.1:c.41T>A XP_011532706.1:p.Val14Glu
NM_000232.5:c.338T>A MANE Select NP_000223.1:p.Val113Glu