Canonical Allele Identifier: CA385034830

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701335G>C (hg19) ; chr12:g.53307551G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307551G>C , CM000674.2:g.53307551G>C	GRCh38
NC_000012.11:g.53701335G>C , CM000674.1:g.53701335G>C	GRCh37
NC_000012.10:g.51987602G>C	NCBI36
NG_016775.1:g.19078C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1579C>G MANE Select	ENSP00000209873.4:p.Pro527Ala
ENST00000546562.6:n.2643C>G
ENST00000547238.6:n.2215C>G
ENST00000547520.6:n.1695C>G
ENST00000547757.2:c.*497C>G	ENSP00000448020.2:n.*497C>G
ENST00000548931.6:c.1014C>G	ENSP00000457518.1:p.Pro338=
ENST00000549450.6:n.1513C>G
ENST00000672797.1:n.2068C>G
ENST00000209873.8:c.1579C>G	ENSP00000209873.4:p.Pro527Ala
ENST00000394384.7:c.1480C>G	ENSP00000377908.3:p.Pro494Ala
ENST00000548931.5:c.1014C>G	ENSP00000457518.1:p.Pro338=
ENST00000550286.5:c.1207C>G	ENSP00000446885.1:p.Pro403Ala
ENST00000552876.5:n.1922C>G
NM_001173466.1:c.1480C>G	NP_001166937.1:p.Pro494Ala
NM_015665.5:c.1579C>G	NP_056480.1:p.Pro527Ala
XM_006719617.2:c.1594C>G	XP_006719680.1:p.Pro532Ala
XM_011538777.1:c.1636C>G	XP_011537079.1:p.Pro546Ala
XM_011538778.1:c.1621C>G	XP_011537080.1:p.Pro541Ala
XM_011538779.1:c.1537C>G	XP_011537081.1:p.Pro513Ala
XM_011538780.1:c.1522C>G	XP_011537082.1:p.Pro508Ala
XM_011538781.1:c.970C>G	XP_011537083.1:p.Pro324Ala
XM_011538778.2:c.1621C>G	XP_011537080.1:p.Pro541Ala
XM_011538780.2:c.1522C>G	XP_011537082.1:p.Pro508Ala
XR_001748875.2:n.1636C>G
NM_015665.6:c.1579C>G MANE Select	NP_056480.1:p.Pro527Ala
NM_001173466.2:c.1480C>G	NP_001166937.1:p.Pro494Ala