Canonical Allele Identifier: CA385038713
Gene: AAAS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53308098G>C , CM000674.2:g.53308098G>C GRCh38
NC_000012.11:g.53701882G>C , CM000674.1:g.53701882G>C GRCh37
NC_000012.10:g.51988149G>C NCBI36
NG_016775.1:g.18531C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000209873.9:c.1285C>G MANE Select ENSP00000209873.4:p.Leu429Val
ENST00000546562.6:n.2349C>G
ENST00000547238.6:n.1921C>G
ENST00000547520.6:n.1279C>G
ENST00000547757.2:c.334C>G ENSP00000448020.2:p.Leu112Val
ENST00000548880.2:n.1735C>G
ENST00000548931.6:c.805C>G ENSP00000457518.1:p.Leu269Val
ENST00000549450.6:n.1219C>G
ENST00000552161.6:n.2241C>G
ENST00000672797.1:n.1774C>G
ENST00000672900.1:n.2375C>G
ENST00000209873.8:c.1285C>G ENSP00000209873.4:p.Leu429Val
ENST00000394384.7:c.1186C>G ENSP00000377908.3:p.Leu396Val
ENST00000548931.5:c.805C>G ENSP00000457518.1:p.Leu269Val
ENST00000550033.5:n.540C>G
ENST00000550286.5:c.913C>G ENSP00000446885.1:p.Leu305Val
ENST00000552876.5:n.1628C>G
NM_001173466.1:c.1186C>G NP_001166937.1:p.Leu396Val
NM_015665.5:c.1285C>G NP_056480.1:p.Leu429Val
XM_006719617.2:c.1300C>G XP_006719680.1:p.Leu434Val
XM_011538777.1:c.1300C>G XP_011537079.1:p.Leu434Val
XM_011538778.1:c.1285C>G XP_011537080.1:p.Leu429Val
XM_011538779.1:c.1201C>G XP_011537081.1:p.Leu401Val
XM_011538780.1:c.1186C>G XP_011537082.1:p.Leu396Val
XM_011538781.1:c.634C>G XP_011537083.1:p.Leu212Val
XM_011538778.2:c.1285C>G XP_011537080.1:p.Leu429Val
XM_011538780.2:c.1186C>G XP_011537082.1:p.Leu396Val
XR_001748875.2:n.1342C>G
NM_015665.6:c.1285C>G MANE Select NP_056480.1:p.Leu429Val
NM_001173466.2:c.1186C>G NP_001166937.1:p.Leu396Val