Canonical Allele Identifier: CA6598791
Gene: AAAS HGNC NCBI

Linked Data

dbSNP Id: rs775217758

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53307514G>T , CM000674.2:g.53307514G>T GRCh38
NC_000012.11:g.53701298G>T , CM000674.1:g.53701298G>T GRCh37
NC_000012.10:g.51987565G>T NCBI36
NG_016775.1:g.19115C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000209873.9:c.1616C>A MANE Select ENSP00000209873.4:p.Pro539His
ENST00000546562.6:n.2680C>A
ENST00000547757.2:c.*534C>A ENSP00000448020.2:n.*534C>A
ENST00000548931.6:c.1051C>A ENSP00000457518.1:p.Pro351Thr
ENST00000549450.6:n.1550C>A
ENST00000209873.8:c.1616C>A ENSP00000209873.4:p.Pro539His
ENST00000394384.7:c.1517C>A ENSP00000377908.3:p.Pro506His
ENST00000548931.5:c.1051C>A ENSP00000457518.1:p.Pro351Thr
ENST00000550286.5:c.1244C>A ENSP00000446885.1:p.Pro415His
ENST00000552876.5:n.1959C>A
NM_001173466.1:c.1517C>A NP_001166937.1:p.Pro506His
NM_015665.5:c.1616C>A NP_056480.1:p.Pro539His
XM_006719617.2:c.1631C>A XP_006719680.1:p.Pro544His
XM_011538777.1:c.1673C>A XP_011537079.1:p.Pro558His
XM_011538778.1:c.1658C>A XP_011537080.1:p.Pro553His
XM_011538779.1:c.1574C>A XP_011537081.1:p.Pro525His
XM_011538780.1:c.1559C>A XP_011537082.1:p.Pro520His
XM_011538781.1:c.1007C>A XP_011537083.1:p.Pro336His
XM_011538778.2:c.1658C>A XP_011537080.1:p.Pro553His
XM_011538780.2:c.1559C>A XP_011537082.1:p.Pro520His
XR_001748875.2:n.1673C>A
NM_015665.6:c.1616C>A MANE Select NP_056480.1:p.Pro539His
NM_001173466.2:c.1517C>A NP_001166937.1:p.Pro506His