Canonical Allele Identifier: CA356877129

Gene: SGCB

Linked Data

• MyVariant Identifiers: chr4:g.52895848T>G (hg19) ; chr4:g.52029682T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029682T>G , CM000666.2:g.52029682T>G	GRCh38
NC_000004.11:g.52895848T>G , CM000666.1:g.52895848T>G	GRCh37
NC_000004.10:g.52590605T>G	NCBI36
NG_008891.1:g.13638A>C , LRG_204:g.13638A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.425A>C MANE Select	ENSP00000370839.6:p.Gln142Pro
ENST00000381431.9:c.425A>C	ENSP00000370839.5:p.Gln142Pro
ENST00000506357.5:c.508A>C
ENST00000514133.1:c.502A>C	ENSP00000425818.1:n.502A>C
NM_000232.4:c.425A>C , LRG_204t1:c.425A>C	NP_000223.1:p.Gln142Pro
XM_006714049.2:c.128A>C	XP_006714112.1:p.Gln43Pro
XM_011534403.1:c.215A>C	XP_011532705.1:p.Gln72Pro
XM_011534404.1:c.128A>C	XP_011532706.1:p.Gln43Pro
NM_000232.5:c.425A>C MANE Select	NP_000223.1:p.Gln142Pro