Canonical Allele Identifier: CA6598785

Gene: AAAS

Linked Data

• dbSNP Id: rs747087331
• ExAC: 12:53701272 C / G
• gnomAD v2: 12-53701272-C-G
• gnomAD v4: 12-53307488-C-G
• MyVariant Identifiers: chr12:g.53701272C>G (hg19) ; chr12:g.53307488C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307488C>G , CM000674.2:g.53307488C>G	GRCh38
NC_000012.11:g.53701272C>G , CM000674.1:g.53701272C>G	GRCh37
NC_000012.10:g.51987539C>G	NCBI36
NG_016775.1:g.19141G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.*1G>C MANE Select	ENSP00000209873.4:n.*1G>C
ENST00000547757.2:c.*560G>C	ENSP00000448020.2:n.*560G>C
ENST00000548931.6:c.1077G>C	ENSP00000457518.1:n.1077G>C
ENST00000549450.6:n.1576G>C
ENST00000209873.8:c.*1G>C	ENSP00000209873.4:n.*1G>C
ENST00000394384.7:c.*1G>C	ENSP00000377908.3:n.*1G>C
ENST00000550286.5:c.*1G>C	ENSP00000446885.1:n.*1G>C
ENST00000552876.5:n.1985G>C
NM_001173466.1:c.*1G>C	NP_001166937.1:n.*1G>C
NM_015665.5:c.*1G>C	NP_056480.1:n.*1G>C
XM_006719617.2:c.*1G>C	XP_006719680.1:n.*1G>C
XM_011538777.1:c.*1G>C	XP_011537079.1:n.*1G>C
XM_011538778.1:c.*1G>C	XP_011537080.1:n.*1G>C
XM_011538779.1:c.*1G>C	XP_011537081.1:n.*1G>C
XM_011538780.1:c.*1G>C	XP_011537082.1:n.*1G>C
XM_011538781.1:c.*1G>C	XP_011537083.1:n.*1G>C
XM_011538778.2:c.*1G>C	XP_011537080.1:n.*1G>C
XM_011538780.2:c.*1G>C	XP_011537082.1:n.*1G>C
XR_001748875.2:n.1699G>C
NM_015665.6:c.*1G>C MANE Select	NP_056480.1:n.*1G>C
NM_001173466.2:c.*1G>C	NP_001166937.1:n.*1G>C