Canonical Allele Identifier: CA385041615

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702947A>C (hg19) ; chr12:g.53309163A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309163A>C , CM000674.2:g.53309163A>C	GRCh38
NC_000012.11:g.53702947A>C , CM000674.1:g.53702947A>C	GRCh37
NC_000012.10:g.51989214A>C	NCBI36
NG_016775.1:g.17466T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.929T>G MANE Select	ENSP00000209873.4:p.Val310Gly
ENST00000546393.7:n.1774T>G
ENST00000546562.6:n.1993T>G
ENST00000547238.6:n.1565T>G
ENST00000547520.6:n.923T>G
ENST00000547757.2:c.-23T>G	ENSP00000448020.2:n.-23T>G
ENST00000548880.2:n.1379T>G
ENST00000548931.6:c.449T>G	ENSP00000457518.1:p.Val150Gly
ENST00000549450.6:n.863T>G
ENST00000552161.6:n.1885T>G
ENST00000672797.1:n.1382T>G
ENST00000672900.1:n.1727T>G
ENST00000209873.8:c.929T>G	ENSP00000209873.4:p.Val310Gly
ENST00000394384.7:c.830T>G	ENSP00000377908.3:p.Val277Gly
ENST00000546393.6:n.826T>G
ENST00000546572.1:n.381T>G
ENST00000547520.5:n.633T>G
ENST00000547757.1:c.830T>G	ENSP00000448020.1:p.Val277Gly
ENST00000547761.6:n.821T>G
ENST00000548931.5:c.449T>G	ENSP00000457518.1:p.Val150Gly
ENST00000550033.5:n.184T>G
ENST00000550286.5:c.557T>G	ENSP00000446885.1:p.Val186Gly
ENST00000552876.5:n.1272T>G
NM_001173466.1:c.830T>G	NP_001166937.1:p.Val277Gly
NM_015665.5:c.929T>G	NP_056480.1:p.Val310Gly
XM_006719617.2:c.944T>G	XP_006719680.1:p.Val315Gly
XM_006719619.2:c.944T>G	XP_006719682.1:p.Val315Gly
XM_011538777.1:c.944T>G	XP_011537079.1:p.Val315Gly
XM_011538778.1:c.929T>G	XP_011537080.1:p.Val310Gly
XM_011538779.1:c.845T>G	XP_011537081.1:p.Val282Gly
XM_011538780.1:c.830T>G	XP_011537082.1:p.Val277Gly
XM_011538781.1:c.278T>G	XP_011537083.1:p.Val93Gly
XM_011538778.2:c.929T>G	XP_011537080.1:p.Val310Gly
XM_011538780.2:c.830T>G	XP_011537082.1:p.Val277Gly
XR_001748875.2:n.950T>G
NM_015665.6:c.929T>G MANE Select	NP_056480.1:p.Val310Gly
NM_001173466.2:c.830T>G	NP_001166937.1:p.Val277Gly