Canonical Allele Identifier: CA385035024

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307576-A-G
• MyVariant Identifiers: chr12:g.53701360A>G (hg19) ; chr12:g.53307576A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307576A>G , CM000674.2:g.53307576A>G	GRCh38
NC_000012.11:g.53701360A>G , CM000674.1:g.53701360A>G	GRCh37
NC_000012.10:g.51987627A>G	NCBI36
NG_016775.1:g.19053T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1554T>C MANE Select	ENSP00000209873.4:p.Phe518=
ENST00000546562.6:n.2618T>C
ENST00000547238.6:n.2190T>C
ENST00000547520.6:n.1670T>C
ENST00000547757.2:c.*472T>C	ENSP00000448020.2:n.*472T>C
ENST00000548931.6:c.989T>C	ENSP00000457518.1:p.Leu330Ser
ENST00000549450.6:n.1488T>C
ENST00000672797.1:n.2043T>C
ENST00000209873.8:c.1554T>C	ENSP00000209873.4:p.Phe518=
ENST00000394384.7:c.1455T>C	ENSP00000377908.3:p.Phe485=
ENST00000548931.5:c.989T>C	ENSP00000457518.1:p.Leu330Ser
ENST00000550286.5:c.1182T>C	ENSP00000446885.1:p.Phe394=
ENST00000552876.5:n.1897T>C
NM_001173466.1:c.1455T>C	NP_001166937.1:p.Phe485=
NM_015665.5:c.1554T>C	NP_056480.1:p.Phe518=
XM_006719617.2:c.1569T>C	XP_006719680.1:p.Phe523=
XM_011538777.1:c.1611T>C	XP_011537079.1:p.Phe537=
XM_011538778.1:c.1596T>C	XP_011537080.1:p.Phe532=
XM_011538779.1:c.1512T>C	XP_011537081.1:p.Phe504=
XM_011538780.1:c.1497T>C	XP_011537082.1:p.Phe499=
XM_011538781.1:c.945T>C	XP_011537083.1:p.Phe315=
XM_011538778.2:c.1596T>C	XP_011537080.1:p.Phe532=
XM_011538780.2:c.1497T>C	XP_011537082.1:p.Phe499=
XR_001748875.2:n.1611T>C
NM_015665.6:c.1554T>C MANE Select	NP_056480.1:p.Phe518=
NM_001173466.2:c.1455T>C	NP_001166937.1:p.Phe485=