Canonical Allele Identifier: CA385035288

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701401G>C (hg19) ; chr12:g.53307617G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307617G>C , CM000674.2:g.53307617G>C	GRCh38
NC_000012.11:g.53701401G>C , CM000674.1:g.53701401G>C	GRCh37
NC_000012.10:g.51987668G>C	NCBI36
NG_016775.1:g.19012C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1513C>G MANE Select	ENSP00000209873.4:p.Pro505Ala
ENST00000546562.6:n.2577C>G
ENST00000547238.6:n.2149C>G
ENST00000547520.6:n.1629C>G
ENST00000547757.2:c.*431C>G	ENSP00000448020.2:n.*431C>G
ENST00000548931.6:c.948C>G	ENSP00000457518.1:p.Pro316=
ENST00000549450.6:n.1447C>G
ENST00000672797.1:n.2002C>G
ENST00000209873.8:c.1513C>G	ENSP00000209873.4:p.Pro505Ala
ENST00000394384.7:c.1414C>G	ENSP00000377908.3:p.Pro472Ala
ENST00000548931.5:c.948C>G	ENSP00000457518.1:p.Pro316=
ENST00000550286.5:c.1141C>G	ENSP00000446885.1:p.Pro381Ala
ENST00000552876.5:n.1856C>G
NM_001173466.1:c.1414C>G	NP_001166937.1:p.Pro472Ala
NM_015665.5:c.1513C>G	NP_056480.1:p.Pro505Ala
XM_006719617.2:c.1528C>G	XP_006719680.1:p.Pro510Ala
XM_011538777.1:c.1570C>G	XP_011537079.1:p.Pro524Ala
XM_011538778.1:c.1555C>G	XP_011537080.1:p.Pro519Ala
XM_011538779.1:c.1471C>G	XP_011537081.1:p.Pro491Ala
XM_011538780.1:c.1456C>G	XP_011537082.1:p.Pro486Ala
XM_011538781.1:c.904C>G	XP_011537083.1:p.Pro302Ala
XM_011538778.2:c.1555C>G	XP_011537080.1:p.Pro519Ala
XM_011538780.2:c.1456C>G	XP_011537082.1:p.Pro486Ala
XR_001748875.2:n.1570C>G
NM_015665.6:c.1513C>G MANE Select	NP_056480.1:p.Pro505Ala
NM_001173466.2:c.1414C>G	NP_001166937.1:p.Pro472Ala