Canonical Allele Identifier: CA385036760

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701426T>A (hg19) ; chr12:g.53307642T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307642T>A , CM000674.2:g.53307642T>A	GRCh38
NC_000012.11:g.53701426T>A , CM000674.1:g.53701426T>A	GRCh37
NC_000012.10:g.51987693T>A	NCBI36
NG_016775.1:g.18987A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1488A>T MANE Select	ENSP00000209873.4:p.Pro496=
ENST00000546562.6:n.2552A>T
ENST00000547238.6:n.2124A>T
ENST00000547520.6:n.1604A>T
ENST00000547757.2:c.*406A>T	ENSP00000448020.2:n.*406A>T
ENST00000548931.6:c.923A>T	ENSP00000457518.1:p.Gln308Leu
ENST00000549450.6:n.1422A>T
ENST00000552161.6:n.2566A>T
ENST00000672797.1:n.1977A>T
ENST00000209873.8:c.1488A>T	ENSP00000209873.4:p.Pro496=
ENST00000394384.7:c.1389A>T	ENSP00000377908.3:p.Pro463=
ENST00000548931.5:c.923A>T	ENSP00000457518.1:p.Gln308Leu
ENST00000550286.5:c.1116A>T	ENSP00000446885.1:p.Pro372=
ENST00000552876.5:n.1831A>T
NM_001173466.1:c.1389A>T	NP_001166937.1:p.Pro463=
NM_015665.5:c.1488A>T	NP_056480.1:p.Pro496=
XM_006719617.2:c.1503A>T	XP_006719680.1:p.Pro501=
XM_011538777.1:c.1545A>T	XP_011537079.1:p.Pro515=
XM_011538778.1:c.1530A>T	XP_011537080.1:p.Pro510=
XM_011538779.1:c.1446A>T	XP_011537081.1:p.Pro482=
XM_011538780.1:c.1431A>T	XP_011537082.1:p.Pro477=
XM_011538781.1:c.879A>T	XP_011537083.1:p.Pro293=
XM_011538778.2:c.1530A>T	XP_011537080.1:p.Pro510=
XM_011538780.2:c.1431A>T	XP_011537082.1:p.Pro477=
XR_001748875.2:n.1545A>T
NM_015665.6:c.1488A>T MANE Select	NP_056480.1:p.Pro496=
NM_001173466.2:c.1389A>T	NP_001166937.1:p.Pro463=