Canonical Allele Identifier: CA6598778

Gene: AAAS

Linked Data

• ClinVar Variation Id: 309717
• ClinVar RCV Id: RCV000285683
• dbSNP Id: rs138994144
• ExAC: 12:53701241 G / A
• gnomAD v2: 12-53701241-G-A
• gnomAD v3: 12-53307457-G-A
• gnomAD v4: 12-53307457-G-A
• MyVariant Identifiers: chr12:g.53701241G>A (hg19) ; chr12:g.53307457G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307457G>A , CM000674.2:g.53307457G>A	GRCh38
NC_000012.11:g.53701241G>A , CM000674.1:g.53701241G>A	GRCh37
NC_000012.10:g.51987508G>A	NCBI36
NG_016775.1:g.19172C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548931.6:c.1108C>T	ENSP00000457518.1:n.1108C>T
ENST00000209873.8:c.*32C>T	ENSP00000209873.4:n.*32C>T
ENST00000552876.5:n.2016C>T
NM_001173466.1:c.*32C>T	NP_001166937.1:n.*32C>T
NM_015665.5:c.*32C>T	NP_056480.1:n.*32C>T
XM_006719617.2:c.*32C>T	XP_006719680.1:n.*32C>T
XM_011538777.1:c.*32C>T	XP_011537079.1:n.*32C>T
XM_011538778.1:c.*32C>T	XP_011537080.1:n.*32C>T
XM_011538779.1:c.*32C>T	XP_011537081.1:n.*32C>T
XM_011538780.1:c.*32C>T	XP_011537082.1:n.*32C>T
XM_011538781.1:c.*32C>T	XP_011537083.1:n.*32C>T
XM_011538778.2:c.*32C>T	XP_011537080.1:n.*32C>T
XM_011538780.2:c.*32C>T	XP_011537082.1:n.*32C>T