Canonical Allele Identifier: CA356875845

Gene: SGCB

Linked Data

• gnomAD v3: 4-52028017-A-G
• gnomAD v4: 4-52028017-A-G
• MyVariant Identifiers: chr4:g.52894183A>G (hg19) ; chr4:g.52028017A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52028017A>G , CM000666.2:g.52028017A>G	GRCh38
NC_000004.11:g.52894183A>G , CM000666.1:g.52894183A>G	GRCh37
NC_000004.10:g.52588940A>G	NCBI36
NG_008891.1:g.15303T>C , LRG_204:g.15303T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.704T>C MANE Select	ENSP00000370839.6:p.Met235Thr
ENST00000381431.9:c.704T>C	ENSP00000370839.5:p.Met235Thr
NM_000232.4:c.704T>C , LRG_204t1:c.704T>C	NP_000223.1:p.Met235Thr
XM_006714049.2:c.407T>C	XP_006714112.1:p.Met136Thr
XM_011534403.1:c.494T>C	XP_011532705.1:p.Met165Thr
XM_011534404.1:c.407T>C	XP_011532706.1:p.Met136Thr
NM_000232.5:c.704T>C MANE Select	NP_000223.1:p.Met235Thr