Canonical Allele Identifier: CA4753194

Gene: TGS1

Linked Data

• ClinVar Variation Id: 2390970
• ClinVar RCV Id: RCV004225306
• dbSNP Id: rs148882143
• ExAC: 8:56698307 G / C
• gnomAD v2: 8-56698307-G-C
• gnomAD v3: 8-55785748-G-C
• gnomAD v4: 8-55785748-G-C
• MyVariant Identifiers: chr8:g.56698307G>C (hg19) ; chr8:g.55785748G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.55785748G>C , CM000670.2:g.55785748G>C	GRCh38
NC_000008.10:g.56698307G>C , CM000670.1:g.56698307G>C	GRCh37
NC_000008.9:g.56860861G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260129.6:c.196G>C MANE Select	ENSP00000260129.5:p.Gly66Arg
ENST00000260129.5:c.196G>C	ENSP00000260129.5:p.Gly66Arg
ENST00000523948.5:c.131G>C	ENSP00000430467.1:p.Trp44Ser
NM_024831.6:c.196G>C	NP_079107.6:p.Gly66Arg
XM_005251328.1:c.-84G>C	XP_005251385.1:n.-84G>C
XM_006716485.1:c.196G>C	XP_006716548.1:p.Gly66Arg
XM_006716486.2:c.-84G>C	XP_006716549.1:n.-84G>C
NM_001317902.1:c.-84G>C	NP_001304831.1:n.-84G>C
NM_001363184.1:c.-84G>C	NP_001350113.1:n.-84G>C
NM_024831.7:c.196G>C	NP_079107.6:p.Gly66Arg
XM_006716485.2:c.196G>C	XP_006716548.1:p.Gly66Arg
XM_017014004.1:c.196G>C	XP_016869493.1:p.Gly66Arg
NM_001317902.2:c.-84G>C	NP_001304831.1:n.-84G>C
NM_001363184.2:c.-84G>C	NP_001350113.1:n.-84G>C
NM_024831.8:c.196G>C MANE Select	NP_079107.6:p.Gly66Arg