Canonical Allele Identifier: CA356876214

Gene: SGCB

Linked Data

• MyVariant Identifiers: chr4:g.52894240A>G (hg19) ; chr4:g.52028074A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52028074A>G , CM000666.2:g.52028074A>G	GRCh38
NC_000004.11:g.52894240A>G , CM000666.1:g.52894240A>G	GRCh37
NC_000004.10:g.52588997A>G	NCBI36
NG_008891.1:g.15246T>C , LRG_204:g.15246T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.647T>C MANE Select	ENSP00000370839.6:p.Leu216Ser
ENST00000381431.9:c.647T>C	ENSP00000370839.5:p.Leu216Ser
NM_000232.4:c.647T>C , LRG_204t1:c.647T>C	NP_000223.1:p.Leu216Ser
XM_006714049.2:c.350T>C	XP_006714112.1:p.Leu117Ser
XM_011534403.1:c.437T>C	XP_011532705.1:p.Leu146Ser
XM_011534404.1:c.350T>C	XP_011532706.1:p.Leu117Ser
NM_000232.5:c.647T>C MANE Select	NP_000223.1:p.Leu216Ser