Canonical Allele Identifier: CA385034531

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701293A>C (hg19) ; chr12:g.53307509A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307509A>C , CM000674.2:g.53307509A>C	GRCh38
NC_000012.11:g.53701293A>C , CM000674.1:g.53701293A>C	GRCh37
NC_000012.10:g.51987560A>C	NCBI36
NG_016775.1:g.19120T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1621T>G MANE Select	ENSP00000209873.4:p.Ser541Ala
ENST00000546562.6:n.2685T>G
ENST00000547757.2:c.*539T>G	ENSP00000448020.2:n.*539T>G
ENST00000548931.6:c.1056T>G	ENSP00000457518.1:p.Thr352=
ENST00000549450.6:n.1555T>G
ENST00000209873.8:c.1621T>G	ENSP00000209873.4:p.Ser541Ala
ENST00000394384.7:c.1522T>G	ENSP00000377908.3:p.Ser508Ala
ENST00000548931.5:c.1056T>G	ENSP00000457518.1:p.Thr352=
ENST00000550286.5:c.1249T>G	ENSP00000446885.1:p.Ser417Ala
ENST00000552876.5:n.1964T>G
NM_001173466.1:c.1522T>G	NP_001166937.1:p.Ser508Ala
NM_015665.5:c.1621T>G	NP_056480.1:p.Ser541Ala
XM_006719617.2:c.1636T>G	XP_006719680.1:p.Ser546Ala
XM_011538777.1:c.1678T>G	XP_011537079.1:p.Ser560Ala
XM_011538778.1:c.1663T>G	XP_011537080.1:p.Ser555Ala
XM_011538779.1:c.1579T>G	XP_011537081.1:p.Ser527Ala
XM_011538780.1:c.1564T>G	XP_011537082.1:p.Ser522Ala
XM_011538781.1:c.1012T>G	XP_011537083.1:p.Ser338Ala
XM_011538778.2:c.1663T>G	XP_011537080.1:p.Ser555Ala
XM_011538780.2:c.1564T>G	XP_011537082.1:p.Ser522Ala
XR_001748875.2:n.1678T>G
NM_015665.6:c.1621T>G MANE Select	NP_056480.1:p.Ser541Ala
NM_001173466.2:c.1522T>G	NP_001166937.1:p.Ser508Ala