Canonical Allele Identifier: CA439274342

Gene: SGCB

Linked Data

• MyVariant Identifiers: chr4:g.52895943A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029777A>G , CM000666.2:g.52029777A>G	GRCh38
NC_000004.11:g.52895943A>G , CM000666.1:g.52895943A>G	GRCh37
NC_000004.10:g.52590700A>G	NCBI36
NG_008891.1:g.13543T>C , LRG_204:g.13543T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.330T>C MANE Select	ENSP00000370839.6:p.Phe110=
ENST00000381431.9:c.330T>C	ENSP00000370839.5:p.Phe110=
ENST00000506357.5:c.413T>C
ENST00000514133.1:c.407T>C	ENSP00000425818.1:n.407T>C
NM_000232.4:c.330T>C , LRG_204t1:c.330T>C	NP_000223.1:p.Phe110=
XM_006714049.2:c.33T>C	XP_006714112.1:p.Phe11=
XM_011534403.1:c.120T>C	XP_011532705.1:p.Phe40=
XM_011534404.1:c.33T>C	XP_011532706.1:p.Phe11=
NM_000232.5:c.330T>C MANE Select	NP_000223.1:p.Phe110=