Canonical Allele Identifier: CA385034827

Gene: AAAS

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1579C>T MANE Select	ENSP00000209873.4:p.Pro527Ser
ENST00000546562.6:n.2643C>T
ENST00000547238.6:n.2215C>T
ENST00000547520.6:n.1695C>T
ENST00000547757.2:c.*497C>T	ENSP00000448020.2:n.*497C>T
ENST00000548931.6:c.1014C>T	ENSP00000457518.1:p.Pro338=
ENST00000549450.6:n.1513C>T
ENST00000672797.1:n.2068C>T
ENST00000209873.8:c.1579C>T	ENSP00000209873.4:p.Pro527Ser
ENST00000394384.7:c.1480C>T	ENSP00000377908.3:p.Pro494Ser
ENST00000548931.5:c.1014C>T	ENSP00000457518.1:p.Pro338=
ENST00000550286.5:c.1207C>T	ENSP00000446885.1:p.Pro403Ser
ENST00000552876.5:n.1922C>T
NM_001173466.1:c.1480C>T	NP_001166937.1:p.Pro494Ser
NM_015665.5:c.1579C>T	NP_056480.1:p.Pro527Ser
XM_006719617.2:c.1594C>T	XP_006719680.1:p.Pro532Ser
XM_011538777.1:c.1636C>T	XP_011537079.1:p.Pro546Ser
XM_011538778.1:c.1621C>T	XP_011537080.1:p.Pro541Ser
XM_011538779.1:c.1537C>T	XP_011537081.1:p.Pro513Ser
XM_011538780.1:c.1522C>T	XP_011537082.1:p.Pro508Ser
XM_011538781.1:c.970C>T	XP_011537083.1:p.Pro324Ser
XM_011538778.2:c.1621C>T	XP_011537080.1:p.Pro541Ser
XM_011538780.2:c.1522C>T	XP_011537082.1:p.Pro508Ser
XR_001748875.2:n.1636C>T
NM_015665.6:c.1579C>T MANE Select	NP_056480.1:p.Pro527Ser
NM_001173466.2:c.1480C>T	NP_001166937.1:p.Pro494Ser