Canonical Allele Identifier: CA385041703

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702957G>C (hg19) ; chr12:g.53309173G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309173G>C , CM000674.2:g.53309173G>C	GRCh38
NC_000012.11:g.53702957G>C , CM000674.1:g.53702957G>C	GRCh37
NC_000012.10:g.51989224G>C	NCBI36
NG_016775.1:g.17456C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.919C>G MANE Select	ENSP00000209873.4:p.Pro307Ala
ENST00000546393.7:n.1764C>G
ENST00000546562.6:n.1983C>G
ENST00000547238.6:n.1555C>G
ENST00000547520.6:n.913C>G
ENST00000547757.2:c.-33C>G	ENSP00000448020.2:n.-33C>G
ENST00000548880.2:n.1369C>G
ENST00000548931.6:c.439C>G	ENSP00000457518.1:p.Pro147Ala
ENST00000549450.6:n.853C>G
ENST00000552161.6:n.1875C>G
ENST00000672797.1:n.1372C>G
ENST00000672900.1:n.1717C>G
ENST00000209873.8:c.919C>G	ENSP00000209873.4:p.Pro307Ala
ENST00000394384.7:c.820C>G	ENSP00000377908.3:p.Pro274Ala
ENST00000546393.6:n.816C>G
ENST00000546572.1:n.371C>G
ENST00000547520.5:n.623C>G
ENST00000547757.1:c.820C>G	ENSP00000448020.1:p.Pro274Ala
ENST00000547761.6:n.811C>G
ENST00000548931.5:c.439C>G	ENSP00000457518.1:p.Pro147Ala
ENST00000550033.5:n.174C>G
ENST00000550286.5:c.547C>G	ENSP00000446885.1:p.Pro183Ala
ENST00000552876.5:n.1262C>G
NM_001173466.1:c.820C>G	NP_001166937.1:p.Pro274Ala
NM_015665.5:c.919C>G	NP_056480.1:p.Pro307Ala
XM_006719617.2:c.934C>G	XP_006719680.1:p.Pro312Ala
XM_006719619.2:c.934C>G	XP_006719682.1:p.Pro312Ala
XM_011538777.1:c.934C>G	XP_011537079.1:p.Pro312Ala
XM_011538778.1:c.919C>G	XP_011537080.1:p.Pro307Ala
XM_011538779.1:c.835C>G	XP_011537081.1:p.Pro279Ala
XM_011538780.1:c.820C>G	XP_011537082.1:p.Pro274Ala
XM_011538781.1:c.268C>G	XP_011537083.1:p.Pro90Ala
XM_011538778.2:c.919C>G	XP_011537080.1:p.Pro307Ala
XM_011538780.2:c.820C>G	XP_011537082.1:p.Pro274Ala
XR_001748875.2:n.940C>G
NM_015665.6:c.919C>G MANE Select	NP_056480.1:p.Pro307Ala
NM_001173466.2:c.820C>G	NP_001166937.1:p.Pro274Ala