Canonical Allele Identifier: CA200214

Gene: ADGRG6

Linked Data

• ClinVar Variation Id: 192349
• ClinVar RCV Id: RCV000172979 ; RCV000186600
• dbSNP Id: rs793888525
• MyVariant Identifiers: chr6:g.142729324T>A (hg19) ; chr6:g.142408187T>A (hg38)
• PubMed: PMID:26004201

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.142408187T>A , CM000668.2:g.142408187T>A	GRCh38
NC_000006.11:g.142729324T>A , CM000668.1:g.142729324T>A	GRCh37
NC_000006.10:g.142771017T>A	NCBI36
NG_011839.1:g.111269T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296932.13:c.2222T>A	ENSP00000296932.8:p.Val741Glu
ENST00000367609.8:c.2306T>A MANE Select	ENSP00000356581.3:p.Val769Glu
ENST00000230173.10:c.2306T>A	ENSP00000230173.6:p.Val769Glu
ENST00000296932.12:c.2222T>A	ENSP00000296932.8:p.Val741Glu
ENST00000367608.6:c.2222T>A	ENSP00000356580.2:p.Val741Glu
ENST00000367609.7:c.2306T>A	ENSP00000356581.3:p.Val769Glu
ENST00000538281.1:n.558T>A
ENST00000540208.1:c.479T>A
NM_001032394.2:c.2222T>A	NP_001027566.1:p.Val741Glu
NM_001032395.2:c.2222T>A	NP_001027567.1:p.Val741Glu
NM_020455.5:c.2306T>A	NP_065188.4:p.Val769Glu
NM_198569.2:c.2306T>A	NP_940971.1:p.Val769Glu
XM_005267061.2:c.2309T>A	XP_005267118.1:p.Val770Glu
XM_006715516.2:c.2309T>A	XP_006715579.1:p.Val770Glu
XM_006715517.2:c.2303T>A	XP_006715580.1:p.Val768Glu
XM_006715518.2:c.2225T>A	XP_006715581.1:p.Val742Glu
XM_011535964.1:c.2306T>A	XP_011534266.1:p.Val769Glu
XM_005267061.3:c.2309T>A	XP_005267118.1:p.Val770Glu
XM_017011085.1:c.2309T>A	XP_016866574.1:p.Val770Glu
NM_198569.3:c.2306T>A MANE Select	NP_940971.2:p.Val769Glu
NM_001032394.3:c.2222T>A	NP_001027566.2:p.Val741Glu
NM_001032395.3:c.2222T>A	NP_001027567.2:p.Val741Glu
NM_020455.6:c.2306T>A	NP_065188.5:p.Val769Glu