Canonical Allele Identifier: CA385037076

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701457A>G (hg19) ; chr12:g.53307673A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307673A>G , CM000674.2:g.53307673A>G	GRCh38
NC_000012.11:g.53701457A>G , CM000674.1:g.53701457A>G	GRCh37
NC_000012.10:g.51987724A>G	NCBI36
NG_016775.1:g.18956T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1457T>C MANE Select	ENSP00000209873.4:p.Phe486Ser
ENST00000546562.6:n.2521T>C
ENST00000547238.6:n.2093T>C
ENST00000547520.6:n.1573T>C
ENST00000547757.2:c.*375T>C	ENSP00000448020.2:n.*375T>C
ENST00000548880.2:n.1907T>C
ENST00000548931.6:c.892T>C	ENSP00000457518.1:p.Leu298=
ENST00000549450.6:n.1391T>C
ENST00000552161.6:n.2535T>C
ENST00000672797.1:n.1946T>C
ENST00000209873.8:c.1457T>C	ENSP00000209873.4:p.Phe486Ser
ENST00000394384.7:c.1358T>C	ENSP00000377908.3:p.Phe453Ser
ENST00000548931.5:c.892T>C	ENSP00000457518.1:p.Leu298=
ENST00000550286.5:c.1085T>C	ENSP00000446885.1:p.Phe362Ser
ENST00000552876.5:n.1800T>C
NM_001173466.1:c.1358T>C	NP_001166937.1:p.Phe453Ser
NM_015665.5:c.1457T>C	NP_056480.1:p.Phe486Ser
XM_006719617.2:c.1472T>C	XP_006719680.1:p.Phe491Ser
XM_011538777.1:c.1514T>C	XP_011537079.1:p.Phe505Ser
XM_011538778.1:c.1499T>C	XP_011537080.1:p.Phe500Ser
XM_011538779.1:c.1415T>C	XP_011537081.1:p.Phe472Ser
XM_011538780.1:c.1400T>C	XP_011537082.1:p.Phe467Ser
XM_011538781.1:c.848T>C	XP_011537083.1:p.Phe283Ser
XM_011538778.2:c.1499T>C	XP_011537080.1:p.Phe500Ser
XM_011538780.2:c.1400T>C	XP_011537082.1:p.Phe467Ser
XR_001748875.2:n.1514T>C
NM_015665.6:c.1457T>C MANE Select	NP_056480.1:p.Phe486Ser
NM_001173466.2:c.1358T>C	NP_001166937.1:p.Phe453Ser