Canonical Allele Identifier: CA385034458

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701283G>A (hg19) ; chr12:g.53307499G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307499G>A , CM000674.2:g.53307499G>A	GRCh38
NC_000012.11:g.53701283G>A , CM000674.1:g.53701283G>A	GRCh37
NC_000012.10:g.51987550G>A	NCBI36
NG_016775.1:g.19130C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1631C>T MANE Select	ENSP00000209873.4:p.Ser544Phe
ENST00000547757.2:c.*549C>T	ENSP00000448020.2:n.*549C>T
ENST00000548931.6:c.1066C>T	ENSP00000457518.1:p.Pro356Ser
ENST00000549450.6:n.1565C>T
ENST00000209873.8:c.1631C>T	ENSP00000209873.4:p.Ser544Phe
ENST00000394384.7:c.1532C>T	ENSP00000377908.3:p.Ser511Phe
ENST00000548931.5:c.1066C>T	ENSP00000457518.1:p.Pro356Ser
ENST00000550286.5:c.1259C>T	ENSP00000446885.1:p.Ser420Phe
ENST00000552876.5:n.1974C>T
NM_001173466.1:c.1532C>T	NP_001166937.1:p.Ser511Phe
NM_015665.5:c.1631C>T	NP_056480.1:p.Ser544Phe
XM_006719617.2:c.1646C>T	XP_006719680.1:p.Ser549Phe
XM_011538777.1:c.1688C>T	XP_011537079.1:p.Ser563Phe
XM_011538778.1:c.1673C>T	XP_011537080.1:p.Ser558Phe
XM_011538779.1:c.1589C>T	XP_011537081.1:p.Ser530Phe
XM_011538780.1:c.1574C>T	XP_011537082.1:p.Ser525Phe
XM_011538781.1:c.1022C>T	XP_011537083.1:p.Ser341Phe
XM_011538778.2:c.1673C>T	XP_011537080.1:p.Ser558Phe
XM_011538780.2:c.1574C>T	XP_011537082.1:p.Ser525Phe
XR_001748875.2:n.1688C>T
NM_015665.6:c.1631C>T MANE Select	NP_056480.1:p.Ser544Phe
NM_001173466.2:c.1532C>T	NP_001166937.1:p.Ser511Phe