Canonical Allele Identifier: CA237330616

Gene: AAAS

Linked Data

• dbSNP Id: rs767509596
• MyVariant Identifiers: chr12:g.53701436C>A (hg19) ; chr12:g.53307652C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307652C>A , CM000674.2:g.53307652C>A	GRCh38
NC_000012.11:g.53701436C>A , CM000674.1:g.53701436C>A	GRCh37
NC_000012.10:g.51987703C>A	NCBI36
NG_016775.1:g.18977G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1478G>T MANE Select	ENSP00000209873.4:p.Arg493Leu
ENST00000546562.6:n.2542G>T
ENST00000547238.6:n.2114G>T
ENST00000547520.6:n.1594G>T
ENST00000547757.2:c.*396G>T	ENSP00000448020.2:n.*396G>T
ENST00000548880.2:n.1928G>T
ENST00000548931.6:c.913G>T	ENSP00000457518.1:p.Val305Phe
ENST00000549450.6:n.1412G>T
ENST00000552161.6:n.2556G>T
ENST00000672797.1:n.1967G>T
ENST00000209873.8:c.1478G>T	ENSP00000209873.4:p.Arg493Leu
ENST00000394384.7:c.1379G>T	ENSP00000377908.3:p.Arg460Leu
ENST00000548931.5:c.913G>T	ENSP00000457518.1:p.Val305Phe
ENST00000550286.5:c.1106G>T	ENSP00000446885.1:p.Arg369Leu
ENST00000552876.5:n.1821G>T
NM_001173466.1:c.1379G>T	NP_001166937.1:p.Arg460Leu
NM_015665.5:c.1478G>T	NP_056480.1:p.Arg493Leu
XM_006719617.2:c.1493G>T	XP_006719680.1:p.Arg498Leu
XM_011538777.1:c.1535G>T	XP_011537079.1:p.Arg512Leu
XM_011538778.1:c.1520G>T	XP_011537080.1:p.Arg507Leu
XM_011538779.1:c.1436G>T	XP_011537081.1:p.Arg479Leu
XM_011538780.1:c.1421G>T	XP_011537082.1:p.Arg474Leu
XM_011538781.1:c.869G>T	XP_011537083.1:p.Arg290Leu
XM_011538778.2:c.1520G>T	XP_011537080.1:p.Arg507Leu
XM_011538780.2:c.1421G>T	XP_011537082.1:p.Arg474Leu
XR_001748875.2:n.1535G>T
NM_015665.6:c.1478G>T MANE Select	NP_056480.1:p.Arg493Leu
NM_001173466.2:c.1379G>T	NP_001166937.1:p.Arg460Leu