Canonical Allele Identifier: CA96786310

Gene: SGCB

Linked Data

• dbSNP Id: rs925721031
• MyVariant Identifiers: chr4:g.52899455T>A (hg19) ; chr4:g.52033289T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033289T>A , CM000666.2:g.52033289T>A	GRCh38
NC_000004.11:g.52899455T>A , CM000666.1:g.52899455T>A	GRCh37
NC_000004.10:g.52594212T>A	NCBI36
NG_008891.1:g.10031A>T , LRG_204:g.10031A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.243+142A>T MANE Select	ENSP00000370839.6:n.243+142A>T
ENST00000381431.9:c.243+142A>T	ENSP00000370839.5:n.243+142A>T
ENST00000506357.5:c.229+142A>T
ENST00000514133.1:c.210+142A>T	ENSP00000425818.1:n.210+142A>T
NM_000232.4:c.243+142A>T , LRG_204t1:c.243+142A>T	NP_000223.1:n.243+142A>T
XM_006714049.2:c.-165+142A>T	XP_006714112.1:n.-165+142A>T
XM_011534403.1:c.34-3426A>T	XP_011532705.1:n.34-3426A>T
XM_011534404.1:c.-142+142A>T	XP_011532706.1:n.-142+142A>T
NM_000232.5:c.243+142A>T MANE Select	NP_000223.1:n.243+142A>T