Canonical Allele Identifier: CA385034471

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701285A>G (hg19) ; chr12:g.53307501A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307501A>G , CM000674.2:g.53307501A>G	GRCh38
NC_000012.11:g.53701285A>G , CM000674.1:g.53701285A>G	GRCh37
NC_000012.10:g.51987552A>G	NCBI36
NG_016775.1:g.19128T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1629T>C MANE Select	ENSP00000209873.4:p.His543=
ENST00000547757.2:c.*547T>C	ENSP00000448020.2:n.*547T>C
ENST00000548931.6:c.1064T>C	ENSP00000457518.1:p.Ile355Thr
ENST00000549450.6:n.1563T>C
ENST00000209873.8:c.1629T>C	ENSP00000209873.4:p.His543=
ENST00000394384.7:c.1530T>C	ENSP00000377908.3:p.His510=
ENST00000548931.5:c.1064T>C	ENSP00000457518.1:p.Ile355Thr
ENST00000550286.5:c.1257T>C	ENSP00000446885.1:p.His419=
ENST00000552876.5:n.1972T>C
NM_001173466.1:c.1530T>C	NP_001166937.1:p.His510=
NM_015665.5:c.1629T>C	NP_056480.1:p.His543=
XM_006719617.2:c.1644T>C	XP_006719680.1:p.His548=
XM_011538777.1:c.1686T>C	XP_011537079.1:p.His562=
XM_011538778.1:c.1671T>C	XP_011537080.1:p.His557=
XM_011538779.1:c.1587T>C	XP_011537081.1:p.His529=
XM_011538780.1:c.1572T>C	XP_011537082.1:p.His524=
XM_011538781.1:c.1020T>C	XP_011537083.1:p.His340=
XM_011538778.2:c.1671T>C	XP_011537080.1:p.His557=
XM_011538780.2:c.1572T>C	XP_011537082.1:p.His524=
XR_001748875.2:n.1686T>C
NM_015665.6:c.1629T>C MANE Select	NP_056480.1:p.His543=
NM_001173466.2:c.1530T>C	NP_001166937.1:p.His510=