Canonical Allele Identifier: CA439274190

Gene: SGCB

Linked Data

• MyVariant Identifiers: chr4:g.52895844A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029678A>G , CM000666.2:g.52029678A>G	GRCh38
NC_000004.11:g.52895844A>G , CM000666.1:g.52895844A>G	GRCh37
NC_000004.10:g.52590601A>G	NCBI36
NG_008891.1:g.13642T>C , LRG_204:g.13642T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.429T>C MANE Select	ENSP00000370839.6:p.Pro143=
ENST00000381431.9:c.429T>C	ENSP00000370839.5:p.Pro143=
ENST00000506357.5:c.512T>C
ENST00000514133.1:c.506T>C	ENSP00000425818.1:n.506T>C
NM_000232.4:c.429T>C , LRG_204t1:c.429T>C	NP_000223.1:p.Pro143=
XM_006714049.2:c.132T>C	XP_006714112.1:p.Pro44=
XM_011534403.1:c.219T>C	XP_011532705.1:p.Pro73=
XM_011534404.1:c.132T>C	XP_011532706.1:p.Pro44=
NM_000232.5:c.429T>C MANE Select	NP_000223.1:p.Pro143=