Canonical Allele Identifier: CA385041418

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702793G>C (hg19) ; chr12:g.53309009G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309009G>C , CM000674.2:g.53309009G>C	GRCh38
NC_000012.11:g.53702793G>C , CM000674.1:g.53702793G>C	GRCh37
NC_000012.10:g.51989060G>C	NCBI36
NG_016775.1:g.17620C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.947C>G MANE Select	ENSP00000209873.4:p.Ala316Gly
ENST00000546393.7:n.1792C>G
ENST00000546562.6:n.2011C>G
ENST00000547238.6:n.1583C>G
ENST00000547520.6:n.941C>G
ENST00000547757.2:c.-5C>G	ENSP00000448020.2:n.-5C>G
ENST00000548880.2:n.1397C>G
ENST00000548931.6:c.467C>G	ENSP00000457518.1:p.Ala156Gly
ENST00000549450.6:n.881C>G
ENST00000552161.6:n.1903C>G
ENST00000672797.1:n.1400C>G
ENST00000672900.1:n.1745C>G
ENST00000209873.8:c.947C>G	ENSP00000209873.4:p.Ala316Gly
ENST00000394384.7:c.848C>G	ENSP00000377908.3:p.Ala283Gly
ENST00000546572.1:n.535C>G
ENST00000547520.5:n.651C>G
ENST00000548931.5:c.467C>G	ENSP00000457518.1:p.Ala156Gly
ENST00000550033.5:n.202C>G
ENST00000550286.5:c.575C>G	ENSP00000446885.1:p.Ala192Gly
ENST00000552876.5:n.1290C>G
NM_001173466.1:c.848C>G	NP_001166937.1:p.Ala283Gly
NM_015665.5:c.947C>G	NP_056480.1:p.Ala316Gly
XM_006719617.2:c.962C>G	XP_006719680.1:p.Ala321Gly
XM_006719619.2:c.962C>G	XP_006719682.1:p.Ala321Gly
XM_011538777.1:c.962C>G	XP_011537079.1:p.Ala321Gly
XM_011538778.1:c.947C>G	XP_011537080.1:p.Ala316Gly
XM_011538779.1:c.863C>G	XP_011537081.1:p.Ala288Gly
XM_011538780.1:c.848C>G	XP_011537082.1:p.Ala283Gly
XM_011538781.1:c.296C>G	XP_011537083.1:p.Ala99Gly
XM_011538778.2:c.947C>G	XP_011537080.1:p.Ala316Gly
XM_011538780.2:c.848C>G	XP_011537082.1:p.Ala283Gly
XR_001748875.2:n.968C>G
NM_015665.6:c.947C>G MANE Select	NP_056480.1:p.Ala316Gly
NM_001173466.2:c.848C>G	NP_001166937.1:p.Ala283Gly