Canonical Allele Identifier: CA385034734

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701324A>C (hg19) ; chr12:g.53307540A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307540A>C , CM000674.2:g.53307540A>C	GRCh38
NC_000012.11:g.53701324A>C , CM000674.1:g.53701324A>C	GRCh37
NC_000012.10:g.51987591A>C	NCBI36
NG_016775.1:g.19089T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1590T>G MANE Select	ENSP00000209873.4:p.Pro530=
ENST00000546562.6:n.2654T>G
ENST00000547238.6:n.2226T>G
ENST00000547757.2:c.*508T>G	ENSP00000448020.2:n.*508T>G
ENST00000548931.6:c.1025T>G	ENSP00000457518.1:p.Leu342Arg
ENST00000549450.6:n.1524T>G
ENST00000672797.1:n.2079T>G
ENST00000209873.8:c.1590T>G	ENSP00000209873.4:p.Pro530=
ENST00000394384.7:c.1491T>G	ENSP00000377908.3:p.Pro497=
ENST00000548931.5:c.1025T>G	ENSP00000457518.1:p.Leu342Arg
ENST00000550286.5:c.1218T>G	ENSP00000446885.1:p.Pro406=
ENST00000552876.5:n.1933T>G
NM_001173466.1:c.1491T>G	NP_001166937.1:p.Pro497=
NM_015665.5:c.1590T>G	NP_056480.1:p.Pro530=
XM_006719617.2:c.1605T>G	XP_006719680.1:p.Pro535=
XM_011538777.1:c.1647T>G	XP_011537079.1:p.Pro549=
XM_011538778.1:c.1632T>G	XP_011537080.1:p.Pro544=
XM_011538779.1:c.1548T>G	XP_011537081.1:p.Pro516=
XM_011538780.1:c.1533T>G	XP_011537082.1:p.Pro511=
XM_011538781.1:c.981T>G	XP_011537083.1:p.Pro327=
XM_011538778.2:c.1632T>G	XP_011537080.1:p.Pro544=
XM_011538780.2:c.1533T>G	XP_011537082.1:p.Pro511=
XR_001748875.2:n.1647T>G
NM_015665.6:c.1590T>G MANE Select	NP_056480.1:p.Pro530=
NM_001173466.2:c.1491T>G	NP_001166937.1:p.Pro497=