Canonical Allele Identifier: CA356876073

Gene: SGCB

Linked Data

• MyVariant Identifiers: chr4:g.52894212A>C (hg19) ; chr4:g.52028046A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52028046A>C , CM000666.2:g.52028046A>C	GRCh38
NC_000004.11:g.52894212A>C , CM000666.1:g.52894212A>C	GRCh37
NC_000004.10:g.52588969A>C	NCBI36
NG_008891.1:g.15274T>G , LRG_204:g.15274T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.675T>G MANE Select	ENSP00000370839.6:p.Ile225Met
ENST00000381431.9:c.675T>G	ENSP00000370839.5:p.Ile225Met
NM_000232.4:c.675T>G , LRG_204t1:c.675T>G	NP_000223.1:p.Ile225Met
XM_006714049.2:c.378T>G	XP_006714112.1:p.Ile126Met
XM_011534403.1:c.465T>G	XP_011532705.1:p.Ile155Met
XM_011534404.1:c.378T>G	XP_011532706.1:p.Ile126Met
NM_000232.5:c.675T>G MANE Select	NP_000223.1:p.Ile225Met