Canonical Allele Identifier: CA121373
Gene: ARHGAP6 HGNC NCBI
AMELX HGNC NCBI

Linked Data

ClinVar Variation Id: 11142
dbSNP Id: rs104894736

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.11298569C>A , CM000685.2:g.11298569C>A GRCh38
NC_000023.10:g.11316689C>A , CM000685.1:g.11316689C>A GRCh37
NC_000023.9:g.11226610C>A NCBI36
NG_012040.1:g.10157C>A
NG_012494.1:g.372133G>T
NG_012494.2:g.372133G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000337414.9:c.589-43862G>T (ARHGAP6) MANE Select ENSP00000338967.4:n.589-43862G>T
ENST00000337414.8:c.589-43862G>T (ARHGAP6) ENSP00000338967.4:n.589-43862G>T
ENST00000348912.4:c.118C>A (AMELX) ENSP00000335312.5:p.Pro40Thr
ENST00000380712.7:c.208C>A (AMELX) ENSP00000370088.3:p.Pro70Thr
ENST00000380714.7:c.166C>A (AMELX) MANE Select ENSP00000370090.3:p.Pro56Thr
ENST00000380718.1:c.589-43862G>T (ARHGAP6) ENSP00000370094.1:n.589-43862G>T
ENST00000380736.5:c.-21-43862G>T (ARHGAP6) ENSP00000370112.1:n.-21-43862G>T
ENST00000489330.6:n.844-43862G>T (ARHGAP6)
ENST00000495242.5:c.589-8091G>T (ARHGAP6) ENSP00000435767.1:n.589-8091G>T
NM_001142.2:c.166C>A (AMELX) MANE Select NP_001133.1:p.Pro56Thr
NM_001287242.1:c.49-43862G>T (ARHGAP6) NP_001274171.1:n.49-43862G>T
NM_006125.2:c.589-43862G>T (ARHGAP6) NP_006116.2:n.589-43862G>T
NM_013427.2:c.589-43862G>T (ARHGAP6) NP_038286.2:n.589-43862G>T
NM_182680.1:c.208C>A (AMELX) NP_872621.1:p.Pro70Thr
NM_182681.1:c.118C>A (AMELX) NP_872622.1:p.Pro40Thr
NR_109776.1:n.1462-8091G>T (ARHGAP6)
XM_011545489.1:c.208C>A (AMELX) XP_011543791.1:p.Pro70Thr
XM_017029404.2:c.166C>A (AMELX) XP_016884893.1:p.Pro56Thr
NM_013427.3:c.589-43862G>T (ARHGAP6) MANE Select NP_038286.2:n.589-43862G>T
NM_001287242.2:c.49-43862G>T (ARHGAP6) NP_001274171.1:n.49-43862G>T
NM_006125.3:c.589-43862G>T (ARHGAP6) NP_006116.2:n.589-43862G>T
NR_109776.2:n.1681-8091G>T (ARHGAP6)