Canonical Allele Identifier: CA356877828

Gene: SGCB

Linked Data

• MyVariant Identifiers: chr4:g.52899625A>C (hg19) ; chr4:g.52033459A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033459A>C , CM000666.2:g.52033459A>C	GRCh38
NC_000004.11:g.52899625A>C , CM000666.1:g.52899625A>C	GRCh37
NC_000004.10:g.52594382A>C	NCBI36
NG_008891.1:g.9861T>G , LRG_204:g.9861T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.215T>G MANE Select	ENSP00000370839.6:p.Leu72Trp
ENST00000381431.9:c.215T>G	ENSP00000370839.5:p.Leu72Trp
ENST00000506357.5:c.201T>G
ENST00000514133.1:c.182T>G	ENSP00000425818.1:p.Leu61Trp
NM_000232.4:c.215T>G , LRG_204t1:c.215T>G	NP_000223.1:p.Leu72Trp
XM_006714049.2:c.-193T>G	XP_006714112.1:n.-193T>G
XM_011534403.1:c.34-3596T>G	XP_011532705.1:n.34-3596T>G
XM_011534404.1:c.-170T>G	XP_011532706.1:n.-170T>G
NM_000232.5:c.215T>G MANE Select	NP_000223.1:p.Leu72Trp