Canonical Allele Identifier: CA356876029

Gene: SGCB

Linked Data

• MyVariant Identifiers: chr4:g.52894202T>A (hg19) ; chr4:g.52028036T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52028036T>A , CM000666.2:g.52028036T>A	GRCh38
NC_000004.11:g.52894202T>A , CM000666.1:g.52894202T>A	GRCh37
NC_000004.10:g.52588959T>A	NCBI36
NG_008891.1:g.15284A>T , LRG_204:g.15284A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.685A>T MANE Select	ENSP00000370839.6:p.Asn229Tyr
ENST00000381431.9:c.685A>T	ENSP00000370839.5:p.Asn229Tyr
NM_000232.4:c.685A>T , LRG_204t1:c.685A>T	NP_000223.1:p.Asn229Tyr
XM_006714049.2:c.388A>T	XP_006714112.1:p.Asn130Tyr
XM_011534403.1:c.475A>T	XP_011532705.1:p.Asn159Tyr
XM_011534404.1:c.388A>T	XP_011532706.1:p.Asn130Tyr
NM_000232.5:c.685A>T MANE Select	NP_000223.1:p.Asn229Tyr