Canonical Allele Identifier: CA385041595

Gene: AAAS

Linked Data

• dbSNP Id: rs1029967361
• gnomAD v2: 12-53702941-C-T
• gnomAD v4: 12-53309157-C-T
• MyVariant Identifiers: chr12:g.53702941C>T (hg19) ; chr12:g.53309157C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309157C>T , CM000674.2:g.53309157C>T	GRCh38
NC_000012.11:g.53702941C>T , CM000674.1:g.53702941C>T	GRCh37
NC_000012.10:g.51989208C>T	NCBI36
NG_016775.1:g.17472G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.935G>A MANE Select	ENSP00000209873.4:p.Arg312Gln
ENST00000546393.7:n.1780G>A
ENST00000546562.6:n.1999G>A
ENST00000547238.6:n.1571G>A
ENST00000547520.6:n.929G>A
ENST00000547757.2:c.-17G>A	ENSP00000448020.2:n.-17G>A
ENST00000548880.2:n.1385G>A
ENST00000548931.6:c.455G>A	ENSP00000457518.1:p.Arg152Gln
ENST00000549450.6:n.869G>A
ENST00000552161.6:n.1891G>A
ENST00000672797.1:n.1388G>A
ENST00000672900.1:n.1733G>A
ENST00000209873.8:c.935G>A	ENSP00000209873.4:p.Arg312Gln
ENST00000394384.7:c.836G>A	ENSP00000377908.3:p.Arg279Gln
ENST00000546393.6:n.832G>A
ENST00000546572.1:n.387G>A
ENST00000547520.5:n.639G>A
ENST00000547761.6:n.827G>A
ENST00000548931.5:c.455G>A	ENSP00000457518.1:p.Arg152Gln
ENST00000550033.5:n.190G>A
ENST00000550286.5:c.563G>A	ENSP00000446885.1:p.Arg188Gln
ENST00000552876.5:n.1278G>A
NM_001173466.1:c.836G>A	NP_001166937.1:p.Arg279Gln
NM_015665.5:c.935G>A	NP_056480.1:p.Arg312Gln
XM_006719617.2:c.950G>A	XP_006719680.1:p.Arg317Gln
XM_006719619.2:c.950G>A	XP_006719682.1:p.Arg317Gln
XM_011538777.1:c.950G>A	XP_011537079.1:p.Arg317Gln
XM_011538778.1:c.935G>A	XP_011537080.1:p.Arg312Gln
XM_011538779.1:c.851G>A	XP_011537081.1:p.Arg284Gln
XM_011538780.1:c.836G>A	XP_011537082.1:p.Arg279Gln
XM_011538781.1:c.284G>A	XP_011537083.1:p.Arg95Gln
XM_011538778.2:c.935G>A	XP_011537080.1:p.Arg312Gln
XM_011538780.2:c.836G>A	XP_011537082.1:p.Arg279Gln
XR_001748875.2:n.956G>A
NM_015665.6:c.935G>A MANE Select	NP_056480.1:p.Arg312Gln
NM_001173466.2:c.836G>A	NP_001166937.1:p.Arg279Gln