Canonical Allele Identifier: CA385040617

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702568A>G (hg19) ; chr12:g.53308784A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308784A>G , CM000674.2:g.53308784A>G	GRCh38
NC_000012.11:g.53702568A>G , CM000674.1:g.53702568A>G	GRCh37
NC_000012.10:g.51988835A>G	NCBI36
NG_016775.1:g.17845T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1028T>C MANE Select	ENSP00000209873.4:p.Leu343Pro
ENST00000546393.7:n.1873T>C
ENST00000546562.6:n.2092T>C
ENST00000547238.6:n.1664T>C
ENST00000547520.6:n.1022T>C
ENST00000547757.2:c.77T>C	ENSP00000448020.2:p.Leu26Pro
ENST00000548880.2:n.1478T>C
ENST00000548931.6:c.548T>C	ENSP00000457518.1:p.Leu183Pro
ENST00000549450.6:n.962T>C
ENST00000552161.6:n.1984T>C
ENST00000672797.1:n.1517T>C
ENST00000672900.1:n.1970T>C
ENST00000209873.8:c.1028T>C	ENSP00000209873.4:p.Leu343Pro
ENST00000394384.7:c.929T>C	ENSP00000377908.3:p.Leu310Pro
ENST00000547520.5:n.732T>C
ENST00000548931.5:c.548T>C	ENSP00000457518.1:p.Leu183Pro
ENST00000550033.5:n.283T>C
ENST00000550286.5:c.656T>C	ENSP00000446885.1:p.Leu219Pro
ENST00000552876.5:n.1371T>C
NM_001173466.1:c.929T>C	NP_001166937.1:p.Leu310Pro
NM_015665.5:c.1028T>C	NP_056480.1:p.Leu343Pro
XM_006719617.2:c.1043T>C	XP_006719680.1:p.Leu348Pro
XM_006719619.2:c.*38T>C	XP_006719682.1:n.*38T>C
XM_011538777.1:c.1043T>C	XP_011537079.1:p.Leu348Pro
XM_011538778.1:c.1028T>C	XP_011537080.1:p.Leu343Pro
XM_011538779.1:c.944T>C	XP_011537081.1:p.Leu315Pro
XM_011538780.1:c.929T>C	XP_011537082.1:p.Leu310Pro
XM_011538781.1:c.377T>C	XP_011537083.1:p.Leu126Pro
XM_011538778.2:c.1028T>C	XP_011537080.1:p.Leu343Pro
XM_011538780.2:c.929T>C	XP_011537082.1:p.Leu310Pro
XR_001748875.2:n.1085T>C
NM_015665.6:c.1028T>C MANE Select	NP_056480.1:p.Leu343Pro
NM_001173466.2:c.929T>C	NP_001166937.1:p.Leu310Pro