Canonical Allele Identifier: CA16042783
Gene: PAX6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372442
ClinVar RCV Id: RCV000414749
dbSNP Id: rs1057517783

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.31793651C>G , CM000673.2:g.31793651C>G GRCh38
NC_000011.8:g.31771775C>G NCBI36
NC_000011.9:g.31815199C>G , CM000673.1:g.31815199C>G GRCh37
NG_008679.1:g.29311G>C , LRG_720:g.29311G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000241001.12:c.916+1G>C ENSP00000241001.8:p.=
ENST00000379107.6:c.958+1G>C ENSP00000368401.2:p.=
ENST00000379109.6:c.916+1G>C ENSP00000368403.2:p.=
ENST00000379111.6:c.916+1G>C ENSP00000368406.2:p.=
ENST00000379115.8:c.958+1G>C ENSP00000368410.4:p.=
ENST00000379123.9:c.916+1G>C ENSP00000368418.5:p.=
ENST00000379129.6:c.958+1G>C ENSP00000368424.2:p.=
ENST00000379132.7:c.916+1G>C ENSP00000368427.2:p.=
ENST00000419022.5:c.958+1G>C ENSP00000404100.1:p.=
ENST00000464174.5:n.522+1G>C
ENST00000470027.6:n.2491+1G>C
ENST00000494377.6:n.2109+1G>C
ENST00000530373.5:n.501+1G>C
ENST00000532916.5:n.246+1G>C
ENST00000533333.5:n.5822+1G>C
ENST00000606377.5:c.958+1G>C ENSP00000480026.1:p.=
NM_000280.4:c.916+1G>C VV NP_000271.1:p.=
NM_001127612.1:c.916+1G>C VV NP_001121084.1:p.=
NM_001258462.1:c.958+1G>C VV NP_001245391.1:p.=
NM_001258463.1:c.958+1G>C VV NP_001245392.1:p.=
NM_001258464.1:c.916+1G>C VV NP_001245393.1:p.=
NM_001258465.1:c.916+1G>C VV NP_001245394.1:p.=
NM_001310158.1:c.958+1G>C VV NP_001297087.1:p.=
NM_001310159.1:c.916+1G>C VV NP_001297088.1:p.=
NM_001310160.1:c.508+1G>C VV NP_001297089.1:p.=
NM_001310161.1:c.508+1G>C VV NP_001297090.1:p.=
NM_001604.5:c.958+1G>C VV NP_001595.2:p.=
XM_005252954.3:c.958+1G>C XP_005253011.1:p.=
XM_005252955.3:c.916+1G>C XP_005253012.1:p.=
XM_005252956.3:c.916+1G>C XP_005253013.1:p.=
XM_005252958.3:c.508+1G>C XP_005253015.1:p.=
XM_006718246.2:c.715+1G>C XP_006718309.1:p.=
XM_011520146.1:c.1162+1G>C XP_011518448.1:p.=
XM_011520147.1:c.1120+1G>C XP_011518449.1:p.=
XM_011520148.1:c.961+1G>C XP_011518450.1:p.=
XM_011520149.1:c.958+1G>C XP_011518451.1:p.=
XM_011520150.1:c.958+1G>C XP_011518452.1:p.=
XM_011520151.1:c.919+1G>C XP_011518453.1:p.=
XM_011520152.1:c.757+1G>C XP_011518454.1:p.=
XM_011520153.1:c.508+1G>C XP_011518455.1:p.=