Canonical Allele Identifier: CA412056294
Gene: ARHGAP6 HGNC NCBI
AMELX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.11294802T>C , CM000685.2:g.11294802T>C GRCh38
NC_000023.10:g.11312922T>C , CM000685.1:g.11312922T>C GRCh37
NC_000023.9:g.11222843T>C NCBI36
NG_012040.1:g.6390T>C
NG_012494.1:g.375900A>G
NG_012494.2:g.375900A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000337414.9:c.589-40095A>G (ARHGAP6) MANE Select ENSP00000338967.4:n.589-40095A>G
ENST00000337414.8:c.589-40095A>G (ARHGAP6) ENSP00000338967.4:n.589-40095A>G
ENST00000348912.4:c.14T>C (AMELX) ENSP00000335312.5:p.Ile5Thr
ENST00000380712.7:c.14T>C (AMELX) ENSP00000370088.3:p.Ile5Thr
ENST00000380714.7:c.14T>C (AMELX) MANE Select ENSP00000370090.3:p.Ile5Thr
ENST00000380718.1:c.589-40095A>G (ARHGAP6) ENSP00000370094.1:n.589-40095A>G
ENST00000380736.5:c.-21-40095A>G (ARHGAP6) ENSP00000370112.1:n.-21-40095A>G
ENST00000489330.6:n.844-40095A>G (ARHGAP6)
ENST00000495242.5:c.589-4324A>G (ARHGAP6) ENSP00000435767.1:n.589-4324A>G
NM_001142.2:c.14T>C (AMELX) MANE Select NP_001133.1:p.Ile5Thr
NM_001287242.1:c.49-40095A>G (ARHGAP6) NP_001274171.1:n.49-40095A>G
NM_006125.2:c.589-40095A>G (ARHGAP6) NP_006116.2:n.589-40095A>G
NM_013427.2:c.589-40095A>G (ARHGAP6) NP_038286.2:n.589-40095A>G
NM_182680.1:c.14T>C (AMELX) NP_872621.1:p.Ile5Thr
NM_182681.1:c.14T>C (AMELX) NP_872622.1:p.Ile5Thr
NR_109776.1:n.1462-4324A>G (ARHGAP6)
XM_011545489.1:c.14T>C (AMELX) XP_011543791.1:p.Ile5Thr
XM_017029404.2:c.14T>C (AMELX) XP_016884893.1:p.Ile5Thr
NM_013427.3:c.589-40095A>G (ARHGAP6) MANE Select NP_038286.2:n.589-40095A>G
NM_001287242.2:c.49-40095A>G (ARHGAP6) NP_001274171.1:n.49-40095A>G
NM_006125.3:c.589-40095A>G (ARHGAP6) NP_006116.2:n.589-40095A>G
NR_109776.2:n.1681-4324A>G (ARHGAP6)