Canonical Allele Identifier: CA121371

Gene: ARHGAP6 AMELX

Linked Data

• ClinVar Variation Id: 11141
• ClinVar RCV Id: RCV000011891
• dbSNP Id: rs104894734
• gnomAD v4: X-11298932-G-T
• MyVariant Identifiers: chrX:g.11317052G>T (hg19) ; chrX:g.11298932G>T (hg38)
• PubMed: PMID:7599636 ; PMID:11922868

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.11298932G>T , CM000685.2:g.11298932G>T	GRCh38
NC_000023.10:g.11317052G>T , CM000685.1:g.11317052G>T	GRCh37
NC_000023.9:g.11226973G>T	NCBI36
NG_012040.1:g.10520G>T
NG_012494.1:g.371770C>A
NG_012494.2:g.371770C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000337414.9:c.589-44225C>A (ARHGAP6) MANE Select	ENSP00000338967.4:n.589-44225C>A
ENST00000337414.8:c.589-44225C>A (ARHGAP6)	ENSP00000338967.4:n.589-44225C>A
ENST00000348912.4:c.481G>T (AMELX)	ENSP00000335312.5:p.Glu161Ter
ENST00000380712.7:c.571G>T (AMELX)	ENSP00000370088.3:p.Glu191Ter
ENST00000380714.7:c.529G>T (AMELX) MANE Select	ENSP00000370090.3:p.Glu177Ter
ENST00000380718.1:c.589-44225C>A (ARHGAP6)	ENSP00000370094.1:n.589-44225C>A
ENST00000380736.5:c.-21-44225C>A (ARHGAP6)	ENSP00000370112.1:n.-21-44225C>A
ENST00000489330.6:n.844-44225C>A (ARHGAP6)
ENST00000495242.5:c.589-8454C>A (ARHGAP6)	ENSP00000435767.1:n.589-8454C>A
NM_001142.2:c.529G>T (AMELX) MANE Select	NP_001133.1:p.Glu177Ter
NM_001287242.1:c.49-44225C>A (ARHGAP6)	NP_001274171.1:n.49-44225C>A
NM_006125.2:c.589-44225C>A (ARHGAP6)	NP_006116.2:n.589-44225C>A
NM_013427.2:c.589-44225C>A (ARHGAP6)	NP_038286.2:n.589-44225C>A
NM_182680.1:c.571G>T (AMELX)	NP_872621.1:p.Glu191Ter
NM_182681.1:c.481G>T (AMELX)	NP_872622.1:p.Glu161Ter
NR_109776.1:n.1462-8454C>A (ARHGAP6)
XM_011545489.1:c.571G>T (AMELX)	XP_011543791.1:p.Glu191Ter
XM_017029404.2:c.529G>T (AMELX)	XP_016884893.1:p.Glu177Ter
NM_013427.3:c.589-44225C>A (ARHGAP6) MANE Select	NP_038286.2:n.589-44225C>A
NM_001287242.2:c.49-44225C>A (ARHGAP6)	NP_001274171.1:n.49-44225C>A
NM_006125.3:c.589-44225C>A (ARHGAP6)	NP_006116.2:n.589-44225C>A
NR_109776.2:n.1681-8454C>A (ARHGAP6)