Canonical Allele Identifier: CA479918420

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702534G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308750G>A , CM000674.2:g.53308750G>A	GRCh38
NC_000012.11:g.53702534G>A , CM000674.1:g.53702534G>A	GRCh37
NC_000012.10:g.51988801G>A	NCBI36
NG_016775.1:g.17879C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1062C>T MANE Select	ENSP00000209873.4:p.Tyr354=
ENST00000546562.6:n.2126C>T
ENST00000547238.6:n.1698C>T
ENST00000547520.6:n.1056C>T
ENST00000547757.2:c.111C>T	ENSP00000448020.2:p.Tyr37=
ENST00000548880.2:n.1512C>T
ENST00000548931.6:c.582C>T	ENSP00000457518.1:p.Tyr194=
ENST00000549450.6:n.996C>T
ENST00000552161.6:n.2018C>T
ENST00000672797.1:n.1551C>T
ENST00000672900.1:n.2004C>T
ENST00000209873.8:c.1062C>T	ENSP00000209873.4:p.Tyr354=
ENST00000394384.7:c.963C>T	ENSP00000377908.3:p.Tyr321=
ENST00000547520.5:n.766C>T
ENST00000548931.5:c.582C>T	ENSP00000457518.1:p.Tyr194=
ENST00000550033.5:n.317C>T
ENST00000550286.5:c.690C>T	ENSP00000446885.1:p.Tyr230=
ENST00000552876.5:n.1405C>T
NM_001173466.1:c.963C>T	NP_001166937.1:p.Tyr321=
NM_015665.5:c.1062C>T	NP_056480.1:p.Tyr354=
XM_006719617.2:c.1077C>T	XP_006719680.1:p.Tyr359=
XM_011538777.1:c.1077C>T	XP_011537079.1:p.Tyr359=
XM_011538778.1:c.1062C>T	XP_011537080.1:p.Tyr354=
XM_011538779.1:c.978C>T	XP_011537081.1:p.Tyr326=
XM_011538780.1:c.963C>T	XP_011537082.1:p.Tyr321=
XM_011538781.1:c.411C>T	XP_011537083.1:p.Tyr137=
XM_011538778.2:c.1062C>T	XP_011537080.1:p.Tyr354=
XM_011538780.2:c.963C>T	XP_011537082.1:p.Tyr321=
XR_001748875.2:n.1119C>T
NM_015665.6:c.1062C>T MANE Select	NP_056480.1:p.Tyr354=
NM_001173466.2:c.963C>T	NP_001166937.1:p.Tyr321=