Canonical Allele Identifier: CA385034920

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701347G>C (hg19) ; chr12:g.53307563G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307563G>C , CM000674.2:g.53307563G>C	GRCh38
NC_000012.11:g.53701347G>C , CM000674.1:g.53701347G>C	GRCh37
NC_000012.10:g.51987614G>C	NCBI36
NG_016775.1:g.19066C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1567C>G MANE Select	ENSP00000209873.4:p.Pro523Ala
ENST00000546562.6:n.2631C>G
ENST00000547238.6:n.2203C>G
ENST00000547520.6:n.1683C>G
ENST00000547757.2:c.*485C>G	ENSP00000448020.2:n.*485C>G
ENST00000548931.6:c.1002C>G	ENSP00000457518.1:p.Pro334=
ENST00000549450.6:n.1501C>G
ENST00000672797.1:n.2056C>G
ENST00000209873.8:c.1567C>G	ENSP00000209873.4:p.Pro523Ala
ENST00000394384.7:c.1468C>G	ENSP00000377908.3:p.Pro490Ala
ENST00000548931.5:c.1002C>G	ENSP00000457518.1:p.Pro334=
ENST00000550286.5:c.1195C>G	ENSP00000446885.1:p.Pro399Ala
ENST00000552876.5:n.1910C>G
NM_001173466.1:c.1468C>G	NP_001166937.1:p.Pro490Ala
NM_015665.5:c.1567C>G	NP_056480.1:p.Pro523Ala
XM_006719617.2:c.1582C>G	XP_006719680.1:p.Pro528Ala
XM_011538777.1:c.1624C>G	XP_011537079.1:p.Pro542Ala
XM_011538778.1:c.1609C>G	XP_011537080.1:p.Pro537Ala
XM_011538779.1:c.1525C>G	XP_011537081.1:p.Pro509Ala
XM_011538780.1:c.1510C>G	XP_011537082.1:p.Pro504Ala
XM_011538781.1:c.958C>G	XP_011537083.1:p.Pro320Ala
XM_011538778.2:c.1609C>G	XP_011537080.1:p.Pro537Ala
XM_011538780.2:c.1510C>G	XP_011537082.1:p.Pro504Ala
XR_001748875.2:n.1624C>G
NM_015665.6:c.1567C>G MANE Select	NP_056480.1:p.Pro523Ala
NM_001173466.2:c.1468C>G	NP_001166937.1:p.Pro490Ala