Canonical Allele Identifier: CA439273770
Gene: SGCB HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.52894215A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028049A>C , CM000666.2:g.52028049A>C GRCh38
NC_000004.11:g.52894215A>C , CM000666.1:g.52894215A>C GRCh37
NC_000004.10:g.52588972A>C NCBI36
NG_008891.1:g.15271T>G , LRG_204:g.15271T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.672T>G MANE Select ENSP00000370839.6:p.Ala224=
ENST00000381431.9:c.672T>G ENSP00000370839.5:p.Ala224=
NM_000232.4:c.672T>G , LRG_204t1:c.672T>G NP_000223.1:p.Ala224=
XM_006714049.2:c.375T>G XP_006714112.1:p.Ala125=
XM_011534403.1:c.462T>G XP_011532705.1:p.Ala154=
XM_011534404.1:c.375T>G XP_011532706.1:p.Ala125=
NM_000232.5:c.672T>G MANE Select NP_000223.1:p.Ala224=