Canonical Allele Identifier: CA385041076

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702755C>A (hg19) ; chr12:g.53308971C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308971C>A , CM000674.2:g.53308971C>A	GRCh38
NC_000012.11:g.53702755C>A , CM000674.1:g.53702755C>A	GRCh37
NC_000012.10:g.51989022C>A	NCBI36
NG_016775.1:g.17658G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.985G>T MANE Select	ENSP00000209873.4:p.Gly329Trp
ENST00000546393.7:n.1830G>T
ENST00000546562.6:n.2049G>T
ENST00000547238.6:n.1621G>T
ENST00000547520.6:n.979G>T
ENST00000547757.2:c.34G>T	ENSP00000448020.2:p.Gly12Trp
ENST00000548880.2:n.1435G>T
ENST00000548931.6:c.505G>T	ENSP00000457518.1:p.Gly169Trp
ENST00000549450.6:n.919G>T
ENST00000552161.6:n.1941G>T
ENST00000672797.1:n.1438G>T
ENST00000672900.1:n.1783G>T
ENST00000209873.8:c.985G>T	ENSP00000209873.4:p.Gly329Trp
ENST00000394384.7:c.886G>T	ENSP00000377908.3:p.Gly296Trp
ENST00000546572.1:n.573G>T
ENST00000547520.5:n.689G>T
ENST00000548931.5:c.505G>T	ENSP00000457518.1:p.Gly169Trp
ENST00000550033.5:n.240G>T
ENST00000550286.5:c.613G>T	ENSP00000446885.1:p.Gly205Trp
ENST00000552876.5:n.1328G>T
NM_001173466.1:c.886G>T	NP_001166937.1:p.Gly296Trp
NM_015665.5:c.985G>T	NP_056480.1:p.Gly329Trp
XM_006719617.2:c.1000G>T	XP_006719680.1:p.Gly334Trp
XM_006719619.2:c.1000G>T	XP_006719682.1:p.Gly334Trp
XM_011538777.1:c.1000G>T	XP_011537079.1:p.Gly334Trp
XM_011538778.1:c.985G>T	XP_011537080.1:p.Gly329Trp
XM_011538779.1:c.901G>T	XP_011537081.1:p.Gly301Trp
XM_011538780.1:c.886G>T	XP_011537082.1:p.Gly296Trp
XM_011538781.1:c.334G>T	XP_011537083.1:p.Gly112Trp
XM_011538778.2:c.985G>T	XP_011537080.1:p.Gly329Trp
XM_011538780.2:c.886G>T	XP_011537082.1:p.Gly296Trp
XR_001748875.2:n.1006G>T
NM_015665.6:c.985G>T MANE Select	NP_056480.1:p.Gly329Trp
NM_001173466.2:c.886G>T	NP_001166937.1:p.Gly296Trp