Canonical Allele Identifier: CA6599011

Gene: AAAS

Linked Data

• ClinVar Variation Id: 2066872
• ClinVar RCV Id: RCV002943614 ; RCV002966255
• dbSNP Id: rs140920186
• ExAC: 12:53702581 C / G
• gnomAD v2: 12-53702581-C-G
• gnomAD v3: 12-53308797-C-G
• gnomAD v4: 12-53308797-C-G
• MyVariant Identifiers: chr12:g.53702581C>G (hg19) ; chr12:g.53308797C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308797C>G , CM000674.2:g.53308797C>G	GRCh38
NC_000012.11:g.53702581C>G , CM000674.1:g.53702581C>G	GRCh37
NC_000012.10:g.51988848C>G	NCBI36
NG_016775.1:g.17832G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1015G>C MANE Select	ENSP00000209873.4:p.Asp339His
ENST00000546393.7:n.1860G>C
ENST00000546562.6:n.2079G>C
ENST00000547238.6:n.1651G>C
ENST00000547520.6:n.1009G>C
ENST00000547757.2:c.64G>C	ENSP00000448020.2:p.Asp22His
ENST00000548880.2:n.1465G>C
ENST00000548931.6:c.535G>C	ENSP00000457518.1:p.Asp179His
ENST00000549450.6:n.949G>C
ENST00000552161.6:n.1971G>C
ENST00000672797.1:n.1504G>C
ENST00000672900.1:n.1957G>C
ENST00000209873.8:c.1015G>C	ENSP00000209873.4:p.Asp339His
ENST00000394384.7:c.916G>C	ENSP00000377908.3:p.Asp306His
ENST00000547520.5:n.719G>C
ENST00000548931.5:c.535G>C	ENSP00000457518.1:p.Asp179His
ENST00000550033.5:n.270G>C
ENST00000550286.5:c.643G>C	ENSP00000446885.1:p.Asp215His
ENST00000552876.5:n.1358G>C
NM_001173466.1:c.916G>C	NP_001166937.1:p.Asp306His
NM_015665.5:c.1015G>C	NP_056480.1:p.Asp339His
XM_006719617.2:c.1030G>C	XP_006719680.1:p.Asp344His
XM_006719619.2:c.*25G>C	XP_006719682.1:n.*25G>C
XM_011538777.1:c.1030G>C	XP_011537079.1:p.Asp344His
XM_011538778.1:c.1015G>C	XP_011537080.1:p.Asp339His
XM_011538779.1:c.931G>C	XP_011537081.1:p.Asp311His
XM_011538780.1:c.916G>C	XP_011537082.1:p.Asp306His
XM_011538781.1:c.364G>C	XP_011537083.1:p.Asp122His
XM_011538778.2:c.1015G>C	XP_011537080.1:p.Asp339His
XM_011538780.2:c.916G>C	XP_011537082.1:p.Asp306His
XR_001748875.2:n.1072G>C
NM_015665.6:c.1015G>C MANE Select	NP_056480.1:p.Asp339His
NM_001173466.2:c.916G>C	NP_001166937.1:p.Asp306His