Canonical Allele Identifier: CA356877127

Gene: SGCB

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.425A>T MANE Select	ENSP00000370839.6:p.Gln142Leu
ENST00000381431.9:c.425A>T	ENSP00000370839.5:p.Gln142Leu
ENST00000506357.5:c.508A>T
ENST00000514133.1:c.502A>T	ENSP00000425818.1:n.502A>T
NM_000232.4:c.425A>T , LRG_204t1:c.425A>T	NP_000223.1:p.Gln142Leu
XM_006714049.2:c.128A>T	XP_006714112.1:p.Gln43Leu
XM_011534403.1:c.215A>T	XP_011532705.1:p.Gln72Leu
XM_011534404.1:c.128A>T	XP_011532706.1:p.Gln43Leu
NM_000232.5:c.425A>T MANE Select	NP_000223.1:p.Gln142Leu