Canonical Allele Identifier: CA479918410

Gene: AAAS

Linked Data

• gnomAD v4: 12-53308738-A-G
• MyVariant Identifiers: chr12:g.53702522A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308738A>G , CM000674.2:g.53308738A>G	GRCh38
NC_000012.11:g.53702522A>G , CM000674.1:g.53702522A>G	GRCh37
NC_000012.10:g.51988789A>G	NCBI36
NG_016775.1:g.17891T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1074T>C MANE Select	ENSP00000209873.4:p.Phe358=
ENST00000546562.6:n.2138T>C
ENST00000547238.6:n.1710T>C
ENST00000547520.6:n.1068T>C
ENST00000547757.2:c.123T>C	ENSP00000448020.2:p.Phe41=
ENST00000548880.2:n.1524T>C
ENST00000548931.6:c.594T>C	ENSP00000457518.1:p.Phe198=
ENST00000549450.6:n.1008T>C
ENST00000552161.6:n.2030T>C
ENST00000672797.1:n.1563T>C
ENST00000672900.1:n.2016T>C
ENST00000209873.8:c.1074T>C	ENSP00000209873.4:p.Phe358=
ENST00000394384.7:c.975T>C	ENSP00000377908.3:p.Phe325=
ENST00000548931.5:c.594T>C	ENSP00000457518.1:p.Phe198=
ENST00000550033.5:n.329T>C
ENST00000550286.5:c.702T>C	ENSP00000446885.1:p.Phe234=
ENST00000552876.5:n.1417T>C
NM_001173466.1:c.975T>C	NP_001166937.1:p.Phe325=
NM_015665.5:c.1074T>C	NP_056480.1:p.Phe358=
XM_006719617.2:c.1089T>C	XP_006719680.1:p.Phe363=
XM_011538777.1:c.1089T>C	XP_011537079.1:p.Phe363=
XM_011538778.1:c.1074T>C	XP_011537080.1:p.Phe358=
XM_011538779.1:c.990T>C	XP_011537081.1:p.Phe330=
XM_011538780.1:c.975T>C	XP_011537082.1:p.Phe325=
XM_011538781.1:c.423T>C	XP_011537083.1:p.Phe141=
XM_011538778.2:c.1074T>C	XP_011537080.1:p.Phe358=
XM_011538780.2:c.975T>C	XP_011537082.1:p.Phe325=
XR_001748875.2:n.1131T>C
NM_015665.6:c.1074T>C MANE Select	NP_056480.1:p.Phe358=
NM_001173466.2:c.975T>C	NP_001166937.1:p.Phe325=