Canonical Allele Identifier: CA385040170

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702511C>T (hg19) ; chr12:g.53308727C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308727C>T , CM000674.2:g.53308727C>T	GRCh38
NC_000012.11:g.53702511C>T , CM000674.1:g.53702511C>T	GRCh37
NC_000012.10:g.51988778C>T	NCBI36
NG_016775.1:g.17902G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1085G>A MANE Select	ENSP00000209873.4:p.Cys362Tyr
ENST00000546562.6:n.2149G>A
ENST00000547238.6:n.1721G>A
ENST00000547520.6:n.1079G>A
ENST00000547757.2:c.134G>A	ENSP00000448020.2:p.Cys45Tyr
ENST00000548880.2:n.1535G>A
ENST00000548931.6:c.605G>A	ENSP00000457518.1:p.Cys202Tyr
ENST00000549450.6:n.1019G>A
ENST00000552161.6:n.2041G>A
ENST00000672797.1:n.1574G>A
ENST00000672900.1:n.2027G>A
ENST00000209873.8:c.1085G>A	ENSP00000209873.4:p.Cys362Tyr
ENST00000394384.7:c.986G>A	ENSP00000377908.3:p.Cys329Tyr
ENST00000548931.5:c.605G>A	ENSP00000457518.1:p.Cys202Tyr
ENST00000550033.5:n.340G>A
ENST00000550286.5:c.713G>A	ENSP00000446885.1:p.Cys238Tyr
ENST00000552876.5:n.1428G>A
NM_001173466.1:c.986G>A	NP_001166937.1:p.Cys329Tyr
NM_015665.5:c.1085G>A	NP_056480.1:p.Cys362Tyr
XM_006719617.2:c.1100G>A	XP_006719680.1:p.Cys367Tyr
XM_011538777.1:c.1100G>A	XP_011537079.1:p.Cys367Tyr
XM_011538778.1:c.1085G>A	XP_011537080.1:p.Cys362Tyr
XM_011538779.1:c.1001G>A	XP_011537081.1:p.Cys334Tyr
XM_011538780.1:c.986G>A	XP_011537082.1:p.Cys329Tyr
XM_011538781.1:c.434G>A	XP_011537083.1:p.Cys145Tyr
XM_011538778.2:c.1085G>A	XP_011537080.1:p.Cys362Tyr
XM_011538780.2:c.986G>A	XP_011537082.1:p.Cys329Tyr
XR_001748875.2:n.1142G>A
NM_015665.6:c.1085G>A MANE Select	NP_056480.1:p.Cys362Tyr
NM_001173466.2:c.986G>A	NP_001166937.1:p.Cys329Tyr