Canonical Allele Identifier: CA356875824
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1159166322
gnomAD v2: 4-52894175-T-A
gnomAD v3: 4-52028009-T-A
gnomAD v4: 4-52028009-T-A
MyVariant Identifiers: chr4:g.52894175T>A (hg19) chr4:g.52028009T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028009T>A , CM000666.2:g.52028009T>A GRCh38
NC_000004.11:g.52894175T>A , CM000666.1:g.52894175T>A GRCh37
NC_000004.10:g.52588932T>A NCBI36
NG_008891.1:g.15311A>T , LRG_204:g.15311A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.712A>T MANE Select ENSP00000370839.6:p.Thr238Ser
ENST00000381431.9:c.712A>T ENSP00000370839.5:p.Thr238Ser
NM_000232.4:c.712A>T , LRG_204t1:c.712A>T NP_000223.1:p.Thr238Ser
XM_006714049.2:c.415A>T XP_006714112.1:p.Thr139Ser
XM_011534403.1:c.502A>T XP_011532705.1:p.Thr168Ser
XM_011534404.1:c.415A>T XP_011532706.1:p.Thr139Ser
NM_000232.5:c.712A>T MANE Select NP_000223.1:p.Thr238Ser
Search 100 bp 5'
Search 100 bp 3'