Canonical Allele Identifier: CA385040353

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702534G>C (hg19) ; chr12:g.53308750G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1062C>G MANE Select	ENSP00000209873.4:p.Tyr354Ter
ENST00000546562.6:n.2126C>G
ENST00000547238.6:n.1698C>G
ENST00000547520.6:n.1056C>G
ENST00000547757.2:c.111C>G	ENSP00000448020.2:p.Tyr37Ter
ENST00000548880.2:n.1512C>G
ENST00000548931.6:c.582C>G	ENSP00000457518.1:p.Tyr194Ter
ENST00000549450.6:n.996C>G
ENST00000552161.6:n.2018C>G
ENST00000672797.1:n.1551C>G
ENST00000672900.1:n.2004C>G
ENST00000209873.8:c.1062C>G	ENSP00000209873.4:p.Tyr354Ter
ENST00000394384.7:c.963C>G	ENSP00000377908.3:p.Tyr321Ter
ENST00000547520.5:n.766C>G
ENST00000548931.5:c.582C>G	ENSP00000457518.1:p.Tyr194Ter
ENST00000550033.5:n.317C>G
ENST00000550286.5:c.690C>G	ENSP00000446885.1:p.Tyr230Ter
ENST00000552876.5:n.1405C>G
NM_001173466.1:c.963C>G	NP_001166937.1:p.Tyr321Ter
NM_015665.5:c.1062C>G	NP_056480.1:p.Tyr354Ter
XM_006719617.2:c.1077C>G	XP_006719680.1:p.Tyr359Ter
XM_011538777.1:c.1077C>G	XP_011537079.1:p.Tyr359Ter
XM_011538778.1:c.1062C>G	XP_011537080.1:p.Tyr354Ter
XM_011538779.1:c.978C>G	XP_011537081.1:p.Tyr326Ter
XM_011538780.1:c.963C>G	XP_011537082.1:p.Tyr321Ter
XM_011538781.1:c.411C>G	XP_011537083.1:p.Tyr137Ter
XM_011538778.2:c.1062C>G	XP_011537080.1:p.Tyr354Ter
XM_011538780.2:c.963C>G	XP_011537082.1:p.Tyr321Ter
XR_001748875.2:n.1119C>G
NM_015665.6:c.1062C>G MANE Select	NP_056480.1:p.Tyr354Ter
NM_001173466.2:c.963C>G	NP_001166937.1:p.Tyr321Ter