Canonical Allele Identifier: CA6598999

Gene: AAAS

Linked Data

• dbSNP Id: rs151040270
• ExAC: 12:53702520 G / A
• MyVariant Identifiers: chr12:g.53702520G>A (hg19) ; chr12:g.53308736G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308736G>A , CM000674.2:g.53308736G>A	GRCh38
NC_000012.11:g.53702520G>A , CM000674.1:g.53702520G>A	GRCh37
NC_000012.10:g.51988787G>A	NCBI36
NG_016775.1:g.17893C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1076C>T MANE Select	ENSP00000209873.4:p.Pro359Leu
ENST00000546562.6:n.2140C>T
ENST00000547238.6:n.1712C>T
ENST00000547520.6:n.1070C>T
ENST00000547757.2:c.125C>T	ENSP00000448020.2:p.Pro42Leu
ENST00000548880.2:n.1526C>T
ENST00000548931.6:c.596C>T	ENSP00000457518.1:p.Pro199Leu
ENST00000549450.6:n.1010C>T
ENST00000552161.6:n.2032C>T
ENST00000672797.1:n.1565C>T
ENST00000672900.1:n.2018C>T
ENST00000209873.8:c.1076C>T	ENSP00000209873.4:p.Pro359Leu
ENST00000394384.7:c.977C>T	ENSP00000377908.3:p.Pro326Leu
ENST00000548931.5:c.596C>T	ENSP00000457518.1:p.Pro199Leu
ENST00000550033.5:n.331C>T
ENST00000550286.5:c.704C>T	ENSP00000446885.1:p.Pro235Leu
ENST00000552876.5:n.1419C>T
NM_001173466.1:c.977C>T	NP_001166937.1:p.Pro326Leu
NM_015665.5:c.1076C>T	NP_056480.1:p.Pro359Leu
XM_006719617.2:c.1091C>T	XP_006719680.1:p.Pro364Leu
XM_011538777.1:c.1091C>T	XP_011537079.1:p.Pro364Leu
XM_011538778.1:c.1076C>T	XP_011537080.1:p.Pro359Leu
XM_011538779.1:c.992C>T	XP_011537081.1:p.Pro331Leu
XM_011538780.1:c.977C>T	XP_011537082.1:p.Pro326Leu
XM_011538781.1:c.425C>T	XP_011537083.1:p.Pro142Leu
XM_011538778.2:c.1076C>T	XP_011537080.1:p.Pro359Leu
XM_011538780.2:c.977C>T	XP_011537082.1:p.Pro326Leu
XR_001748875.2:n.1133C>T
NM_015665.6:c.1076C>T MANE Select	NP_056480.1:p.Pro359Leu
NM_001173466.2:c.977C>T	NP_001166937.1:p.Pro326Leu