Canonical Allele Identifier: CA385041002

Gene: AAAS

Linked Data

• dbSNP Id: rs1412672254
• gnomAD v2: 12-53702746-G-C
• gnomAD v3: 12-53308962-G-C
• gnomAD v4: 12-53308962-G-C
• MyVariant Identifiers: chr12:g.53702746G>C (hg19) ; chr12:g.53308962G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308962G>C , CM000674.2:g.53308962G>C	GRCh38
NC_000012.11:g.53702746G>C , CM000674.1:g.53702746G>C	GRCh37
NC_000012.10:g.51989013G>C	NCBI36
NG_016775.1:g.17667C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.994C>G MANE Select	ENSP00000209873.4:p.Gln332Glu
ENST00000546393.7:n.1839C>G
ENST00000546562.6:n.2058C>G
ENST00000547238.6:n.1630C>G
ENST00000547520.6:n.988C>G
ENST00000547757.2:c.43C>G	ENSP00000448020.2:p.Gln15Glu
ENST00000548880.2:n.1444C>G
ENST00000548931.6:c.514C>G	ENSP00000457518.1:p.Gln172Glu
ENST00000549450.6:n.928C>G
ENST00000552161.6:n.1950C>G
ENST00000672797.1:n.1447C>G
ENST00000672900.1:n.1792C>G
ENST00000209873.8:c.994C>G	ENSP00000209873.4:p.Gln332Glu
ENST00000394384.7:c.895C>G	ENSP00000377908.3:p.Gln299Glu
ENST00000546572.1:n.582C>G
ENST00000547520.5:n.698C>G
ENST00000548931.5:c.514C>G	ENSP00000457518.1:p.Gln172Glu
ENST00000550033.5:n.249C>G
ENST00000550286.5:c.622C>G	ENSP00000446885.1:p.Gln208Glu
ENST00000552876.5:n.1337C>G
NM_001173466.1:c.895C>G	NP_001166937.1:p.Gln299Glu
NM_015665.5:c.994C>G	NP_056480.1:p.Gln332Glu
XM_006719617.2:c.1009C>G	XP_006719680.1:p.Gln337Glu
XM_006719619.2:c.1009C>G	XP_006719682.1:p.Gln337Glu
XM_011538777.1:c.1009C>G	XP_011537079.1:p.Gln337Glu
XM_011538778.1:c.994C>G	XP_011537080.1:p.Gln332Glu
XM_011538779.1:c.910C>G	XP_011537081.1:p.Gln304Glu
XM_011538780.1:c.895C>G	XP_011537082.1:p.Gln299Glu
XM_011538781.1:c.343C>G	XP_011537083.1:p.Gln115Glu
XM_011538778.2:c.994C>G	XP_011537080.1:p.Gln332Glu
XM_011538780.2:c.895C>G	XP_011537082.1:p.Gln299Glu
XR_001748875.2:n.1015C>G
NM_015665.6:c.994C>G MANE Select	NP_056480.1:p.Gln332Glu
NM_001173466.2:c.895C>G	NP_001166937.1:p.Gln299Glu