Canonical Allele Identifier: CA385034903

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701345T>A (hg19) ; chr12:g.53307561T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307561T>A , CM000674.2:g.53307561T>A	GRCh38
NC_000012.11:g.53701345T>A , CM000674.1:g.53701345T>A	GRCh37
NC_000012.10:g.51987612T>A	NCBI36
NG_016775.1:g.19068A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1569A>T MANE Select	ENSP00000209873.4:p.Pro523=
ENST00000546562.6:n.2633A>T
ENST00000547238.6:n.2205A>T
ENST00000547520.6:n.1685A>T
ENST00000547757.2:c.*487A>T	ENSP00000448020.2:n.*487A>T
ENST00000548931.6:c.1004A>T	ENSP00000457518.1:p.Gln335Leu
ENST00000549450.6:n.1503A>T
ENST00000672797.1:n.2058A>T
ENST00000209873.8:c.1569A>T	ENSP00000209873.4:p.Pro523=
ENST00000394384.7:c.1470A>T	ENSP00000377908.3:p.Pro490=
ENST00000548931.5:c.1004A>T	ENSP00000457518.1:p.Gln335Leu
ENST00000550286.5:c.1197A>T	ENSP00000446885.1:p.Pro399=
ENST00000552876.5:n.1912A>T
NM_001173466.1:c.1470A>T	NP_001166937.1:p.Pro490=
NM_015665.5:c.1569A>T	NP_056480.1:p.Pro523=
XM_006719617.2:c.1584A>T	XP_006719680.1:p.Pro528=
XM_011538777.1:c.1626A>T	XP_011537079.1:p.Pro542=
XM_011538778.1:c.1611A>T	XP_011537080.1:p.Pro537=
XM_011538779.1:c.1527A>T	XP_011537081.1:p.Pro509=
XM_011538780.1:c.1512A>T	XP_011537082.1:p.Pro504=
XM_011538781.1:c.960A>T	XP_011537083.1:p.Pro320=
XM_011538778.2:c.1611A>T	XP_011537080.1:p.Pro537=
XM_011538780.2:c.1512A>T	XP_011537082.1:p.Pro504=
XR_001748875.2:n.1626A>T
NM_015665.6:c.1569A>T MANE Select	NP_056480.1:p.Pro523=
NM_001173466.2:c.1470A>T	NP_001166937.1:p.Pro490=