Canonical Allele Identifier: CA385034915

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307562-G-A
• MyVariant Identifiers: chr12:g.53701346G>A (hg19) ; chr12:g.53307562G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307562G>A , CM000674.2:g.53307562G>A	GRCh38
NC_000012.11:g.53701346G>A , CM000674.1:g.53701346G>A	GRCh37
NC_000012.10:g.51987613G>A	NCBI36
NG_016775.1:g.19067C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1568C>T MANE Select	ENSP00000209873.4:p.Pro523Leu
ENST00000546562.6:n.2632C>T
ENST00000547238.6:n.2204C>T
ENST00000547520.6:n.1684C>T
ENST00000547757.2:c.*486C>T	ENSP00000448020.2:n.*486C>T
ENST00000548931.6:c.1003C>T	ENSP00000457518.1:p.Gln335Ter
ENST00000549450.6:n.1502C>T
ENST00000672797.1:n.2057C>T
ENST00000209873.8:c.1568C>T	ENSP00000209873.4:p.Pro523Leu
ENST00000394384.7:c.1469C>T	ENSP00000377908.3:p.Pro490Leu
ENST00000548931.5:c.1003C>T	ENSP00000457518.1:p.Gln335Ter
ENST00000550286.5:c.1196C>T	ENSP00000446885.1:p.Pro399Leu
ENST00000552876.5:n.1911C>T
NM_001173466.1:c.1469C>T	NP_001166937.1:p.Pro490Leu
NM_015665.5:c.1568C>T	NP_056480.1:p.Pro523Leu
XM_006719617.2:c.1583C>T	XP_006719680.1:p.Pro528Leu
XM_011538777.1:c.1625C>T	XP_011537079.1:p.Pro542Leu
XM_011538778.1:c.1610C>T	XP_011537080.1:p.Pro537Leu
XM_011538779.1:c.1526C>T	XP_011537081.1:p.Pro509Leu
XM_011538780.1:c.1511C>T	XP_011537082.1:p.Pro504Leu
XM_011538781.1:c.959C>T	XP_011537083.1:p.Pro320Leu
XM_011538778.2:c.1610C>T	XP_011537080.1:p.Pro537Leu
XM_011538780.2:c.1511C>T	XP_011537082.1:p.Pro504Leu
XR_001748875.2:n.1625C>T
NM_015665.6:c.1568C>T MANE Select	NP_056480.1:p.Pro523Leu
NM_001173466.2:c.1469C>T	NP_001166937.1:p.Pro490Leu