Canonical Allele Identifier: CA237331221

Gene: AAAS

Linked Data

• dbSNP Id: rs980119995
• gnomAD v4: 12-53308782-G-A
• COSMIC: COSM3462651
• MyVariant Identifiers: chr12:g.53702566G>A (hg19) ; chr12:g.53308782G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308782G>A , CM000674.2:g.53308782G>A	GRCh38
NC_000012.11:g.53702566G>A , CM000674.1:g.53702566G>A	GRCh37
NC_000012.10:g.51988833G>A	NCBI36
NG_016775.1:g.17847C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1030C>T MANE Select	ENSP00000209873.4:p.Leu344=
ENST00000546393.7:n.1875C>T
ENST00000546562.6:n.2094C>T
ENST00000547238.6:n.1666C>T
ENST00000547520.6:n.1024C>T
ENST00000547757.2:c.79C>T	ENSP00000448020.2:p.Leu27=
ENST00000548880.2:n.1480C>T
ENST00000548931.6:c.550C>T	ENSP00000457518.1:p.Leu184=
ENST00000549450.6:n.964C>T
ENST00000552161.6:n.1986C>T
ENST00000672797.1:n.1519C>T
ENST00000672900.1:n.1972C>T
ENST00000209873.8:c.1030C>T	ENSP00000209873.4:p.Leu344=
ENST00000394384.7:c.931C>T	ENSP00000377908.3:p.Leu311=
ENST00000547520.5:n.734C>T
ENST00000548931.5:c.550C>T	ENSP00000457518.1:p.Leu184=
ENST00000550033.5:n.285C>T
ENST00000550286.5:c.658C>T	ENSP00000446885.1:p.Leu220=
ENST00000552876.5:n.1373C>T
NM_001173466.1:c.931C>T	NP_001166937.1:p.Leu311=
NM_015665.5:c.1030C>T	NP_056480.1:p.Leu344=
XM_006719617.2:c.1045C>T	XP_006719680.1:p.Leu349=
XM_006719619.2:c.*40C>T	XP_006719682.1:n.*40C>T
XM_011538777.1:c.1045C>T	XP_011537079.1:p.Leu349=
XM_011538778.1:c.1030C>T	XP_011537080.1:p.Leu344=
XM_011538779.1:c.946C>T	XP_011537081.1:p.Leu316=
XM_011538780.1:c.931C>T	XP_011537082.1:p.Leu311=
XM_011538781.1:c.379C>T	XP_011537083.1:p.Leu127=
XM_011538778.2:c.1030C>T	XP_011537080.1:p.Leu344=
XM_011538780.2:c.931C>T	XP_011537082.1:p.Leu311=
XR_001748875.2:n.1087C>T
NM_015665.6:c.1030C>T MANE Select	NP_056480.1:p.Leu344=
NM_001173466.2:c.931C>T	NP_001166937.1:p.Leu311=