Canonical Allele Identifier: CA385040262

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702521G>C (hg19) ; chr12:g.53308737G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308737G>C , CM000674.2:g.53308737G>C	GRCh38
NC_000012.11:g.53702521G>C , CM000674.1:g.53702521G>C	GRCh37
NC_000012.10:g.51988788G>C	NCBI36
NG_016775.1:g.17892C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1075C>G MANE Select	ENSP00000209873.4:p.Pro359Ala
ENST00000546562.6:n.2139C>G
ENST00000547238.6:n.1711C>G
ENST00000547520.6:n.1069C>G
ENST00000547757.2:c.124C>G	ENSP00000448020.2:p.Pro42Ala
ENST00000548880.2:n.1525C>G
ENST00000548931.6:c.595C>G	ENSP00000457518.1:p.Pro199Ala
ENST00000549450.6:n.1009C>G
ENST00000552161.6:n.2031C>G
ENST00000672797.1:n.1564C>G
ENST00000672900.1:n.2017C>G
ENST00000209873.8:c.1075C>G	ENSP00000209873.4:p.Pro359Ala
ENST00000394384.7:c.976C>G	ENSP00000377908.3:p.Pro326Ala
ENST00000548931.5:c.595C>G	ENSP00000457518.1:p.Pro199Ala
ENST00000550033.5:n.330C>G
ENST00000550286.5:c.703C>G	ENSP00000446885.1:p.Pro235Ala
ENST00000552876.5:n.1418C>G
NM_001173466.1:c.976C>G	NP_001166937.1:p.Pro326Ala
NM_015665.5:c.1075C>G	NP_056480.1:p.Pro359Ala
XM_006719617.2:c.1090C>G	XP_006719680.1:p.Pro364Ala
XM_011538777.1:c.1090C>G	XP_011537079.1:p.Pro364Ala
XM_011538778.1:c.1075C>G	XP_011537080.1:p.Pro359Ala
XM_011538779.1:c.991C>G	XP_011537081.1:p.Pro331Ala
XM_011538780.1:c.976C>G	XP_011537082.1:p.Pro326Ala
XM_011538781.1:c.424C>G	XP_011537083.1:p.Pro142Ala
XM_011538778.2:c.1075C>G	XP_011537080.1:p.Pro359Ala
XM_011538780.2:c.976C>G	XP_011537082.1:p.Pro326Ala
XR_001748875.2:n.1132C>G
NM_015665.6:c.1075C>G MANE Select	NP_056480.1:p.Pro359Ala
NM_001173466.2:c.976C>G	NP_001166937.1:p.Pro326Ala