Canonical Allele Identifier: CA385034867

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701340G>C (hg19) ; chr12:g.53307556G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307556G>C , CM000674.2:g.53307556G>C	GRCh38
NC_000012.11:g.53701340G>C , CM000674.1:g.53701340G>C	GRCh37
NC_000012.10:g.51987607G>C	NCBI36
NG_016775.1:g.19073C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1574C>G MANE Select	ENSP00000209873.4:p.Ser525Cys
ENST00000546562.6:n.2638C>G
ENST00000547238.6:n.2210C>G
ENST00000547520.6:n.1690C>G
ENST00000547757.2:c.*492C>G	ENSP00000448020.2:n.*492C>G
ENST00000548931.6:c.1009C>G	ENSP00000457518.1:p.Leu337Val
ENST00000549450.6:n.1508C>G
ENST00000672797.1:n.2063C>G
ENST00000209873.8:c.1574C>G	ENSP00000209873.4:p.Ser525Cys
ENST00000394384.7:c.1475C>G	ENSP00000377908.3:p.Ser492Cys
ENST00000548931.5:c.1009C>G	ENSP00000457518.1:p.Leu337Val
ENST00000550286.5:c.1202C>G	ENSP00000446885.1:p.Ser401Cys
ENST00000552876.5:n.1917C>G
NM_001173466.1:c.1475C>G	NP_001166937.1:p.Ser492Cys
NM_015665.5:c.1574C>G	NP_056480.1:p.Ser525Cys
XM_006719617.2:c.1589C>G	XP_006719680.1:p.Ser530Cys
XM_011538777.1:c.1631C>G	XP_011537079.1:p.Ser544Cys
XM_011538778.1:c.1616C>G	XP_011537080.1:p.Ser539Cys
XM_011538779.1:c.1532C>G	XP_011537081.1:p.Ser511Cys
XM_011538780.1:c.1517C>G	XP_011537082.1:p.Ser506Cys
XM_011538781.1:c.965C>G	XP_011537083.1:p.Ser322Cys
XM_011538778.2:c.1616C>G	XP_011537080.1:p.Ser539Cys
XM_011538780.2:c.1517C>G	XP_011537082.1:p.Ser506Cys
XR_001748875.2:n.1631C>G
NM_015665.6:c.1574C>G MANE Select	NP_056480.1:p.Ser525Cys
NM_001173466.2:c.1475C>G	NP_001166937.1:p.Ser492Cys