Canonical Allele Identifier: CA385040188

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702514C>A (hg19) ; chr12:g.53308730C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308730C>A , CM000674.2:g.53308730C>A	GRCh38
NC_000012.11:g.53702514C>A , CM000674.1:g.53702514C>A	GRCh37
NC_000012.10:g.51988781C>A	NCBI36
NG_016775.1:g.17899G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1082G>T MANE Select	ENSP00000209873.4:p.Arg361Leu
ENST00000546562.6:n.2146G>T
ENST00000547238.6:n.1718G>T
ENST00000547520.6:n.1076G>T
ENST00000547757.2:c.131G>T	ENSP00000448020.2:p.Arg44Leu
ENST00000548880.2:n.1532G>T
ENST00000548931.6:c.602G>T	ENSP00000457518.1:p.Arg201Leu
ENST00000549450.6:n.1016G>T
ENST00000552161.6:n.2038G>T
ENST00000672797.1:n.1571G>T
ENST00000672900.1:n.2024G>T
ENST00000209873.8:c.1082G>T	ENSP00000209873.4:p.Arg361Leu
ENST00000394384.7:c.983G>T	ENSP00000377908.3:p.Arg328Leu
ENST00000548931.5:c.602G>T	ENSP00000457518.1:p.Arg201Leu
ENST00000550033.5:n.337G>T
ENST00000550286.5:c.710G>T	ENSP00000446885.1:p.Arg237Leu
ENST00000552876.5:n.1425G>T
NM_001173466.1:c.983G>T	NP_001166937.1:p.Arg328Leu
NM_015665.5:c.1082G>T	NP_056480.1:p.Arg361Leu
XM_006719617.2:c.1097G>T	XP_006719680.1:p.Arg366Leu
XM_011538777.1:c.1097G>T	XP_011537079.1:p.Arg366Leu
XM_011538778.1:c.1082G>T	XP_011537080.1:p.Arg361Leu
XM_011538779.1:c.998G>T	XP_011537081.1:p.Arg333Leu
XM_011538780.1:c.983G>T	XP_011537082.1:p.Arg328Leu
XM_011538781.1:c.431G>T	XP_011537083.1:p.Arg144Leu
XM_011538778.2:c.1082G>T	XP_011537080.1:p.Arg361Leu
XM_011538780.2:c.983G>T	XP_011537082.1:p.Arg328Leu
XR_001748875.2:n.1139G>T
NM_015665.6:c.1082G>T MANE Select	NP_056480.1:p.Arg361Leu
NM_001173466.2:c.983G>T	NP_001166937.1:p.Arg328Leu