Canonical Allele Identifier: CA356877325

Gene: SGCB

Linked Data

• MyVariant Identifiers: chr4:g.52895942T>G (hg19) ; chr4:g.52029776T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029776T>G , CM000666.2:g.52029776T>G	GRCh38
NC_000004.11:g.52895942T>G , CM000666.1:g.52895942T>G	GRCh37
NC_000004.10:g.52590699T>G	NCBI36
NG_008891.1:g.13544A>C , LRG_204:g.13544A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.331A>C MANE Select	ENSP00000370839.6:p.Lys111Gln
ENST00000381431.9:c.331A>C	ENSP00000370839.5:p.Lys111Gln
ENST00000506357.5:c.414A>C
ENST00000514133.1:c.408A>C	ENSP00000425818.1:n.408A>C
NM_000232.4:c.331A>C , LRG_204t1:c.331A>C	NP_000223.1:p.Lys111Gln
XM_006714049.2:c.34A>C	XP_006714112.1:p.Lys12Gln
XM_011534403.1:c.121A>C	XP_011532705.1:p.Lys41Gln
XM_011534404.1:c.34A>C	XP_011532706.1:p.Lys12Gln
NM_000232.5:c.331A>C MANE Select	NP_000223.1:p.Lys111Gln