Canonical Allele Identifier: CA385034760

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307543-G-A
• MyVariant Identifiers: chr12:g.53701327G>A (hg19) ; chr12:g.53307543G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307543G>A , CM000674.2:g.53307543G>A	GRCh38
NC_000012.11:g.53701327G>A , CM000674.1:g.53701327G>A	GRCh37
NC_000012.10:g.51987594G>A	NCBI36
NG_016775.1:g.19086C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1587C>T MANE Select	ENSP00000209873.4:p.Asp529=
ENST00000546562.6:n.2651C>T
ENST00000547238.6:n.2223C>T
ENST00000547520.6:n.1703C>T
ENST00000547757.2:c.*505C>T	ENSP00000448020.2:n.*505C>T
ENST00000548931.6:c.1022C>T	ENSP00000457518.1:p.Thr341Ile
ENST00000549450.6:n.1521C>T
ENST00000672797.1:n.2076C>T
ENST00000209873.8:c.1587C>T	ENSP00000209873.4:p.Asp529=
ENST00000394384.7:c.1488C>T	ENSP00000377908.3:p.Asp496=
ENST00000548931.5:c.1022C>T	ENSP00000457518.1:p.Thr341Ile
ENST00000550286.5:c.1215C>T	ENSP00000446885.1:p.Asp405=
ENST00000552876.5:n.1930C>T
NM_001173466.1:c.1488C>T	NP_001166937.1:p.Asp496=
NM_015665.5:c.1587C>T	NP_056480.1:p.Asp529=
XM_006719617.2:c.1602C>T	XP_006719680.1:p.Asp534=
XM_011538777.1:c.1644C>T	XP_011537079.1:p.Asp548=
XM_011538778.1:c.1629C>T	XP_011537080.1:p.Asp543=
XM_011538779.1:c.1545C>T	XP_011537081.1:p.Asp515=
XM_011538780.1:c.1530C>T	XP_011537082.1:p.Asp510=
XM_011538781.1:c.978C>T	XP_011537083.1:p.Asp326=
XM_011538778.2:c.1629C>T	XP_011537080.1:p.Asp543=
XM_011538780.2:c.1530C>T	XP_011537082.1:p.Asp510=
XR_001748875.2:n.1644C>T
NM_015665.6:c.1587C>T MANE Select	NP_056480.1:p.Asp529=
NM_001173466.2:c.1488C>T	NP_001166937.1:p.Asp496=