Canonical Allele Identifier: CA385041122

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702761G>T (hg19) ; chr12:g.53308977G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308977G>T , CM000674.2:g.53308977G>T	GRCh38
NC_000012.11:g.53702761G>T , CM000674.1:g.53702761G>T	GRCh37
NC_000012.10:g.51989028G>T	NCBI36
NG_016775.1:g.17652C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.979C>A MANE Select	ENSP00000209873.4:p.Leu327Ile
ENST00000546393.7:n.1824C>A
ENST00000546562.6:n.2043C>A
ENST00000547238.6:n.1615C>A
ENST00000547520.6:n.973C>A
ENST00000547757.2:c.28C>A	ENSP00000448020.2:p.Leu10Ile
ENST00000548880.2:n.1429C>A
ENST00000548931.6:c.499C>A	ENSP00000457518.1:p.Leu167Ile
ENST00000549450.6:n.913C>A
ENST00000552161.6:n.1935C>A
ENST00000672797.1:n.1432C>A
ENST00000672900.1:n.1777C>A
ENST00000209873.8:c.979C>A	ENSP00000209873.4:p.Leu327Ile
ENST00000394384.7:c.880C>A	ENSP00000377908.3:p.Leu294Ile
ENST00000546572.1:n.567C>A
ENST00000547520.5:n.683C>A
ENST00000548931.5:c.499C>A	ENSP00000457518.1:p.Leu167Ile
ENST00000550033.5:n.234C>A
ENST00000550286.5:c.607C>A	ENSP00000446885.1:p.Leu203Ile
ENST00000552876.5:n.1322C>A
NM_001173466.1:c.880C>A	NP_001166937.1:p.Leu294Ile
NM_015665.5:c.979C>A	NP_056480.1:p.Leu327Ile
XM_006719617.2:c.994C>A	XP_006719680.1:p.Leu332Ile
XM_006719619.2:c.994C>A	XP_006719682.1:p.Leu332Ile
XM_011538777.1:c.994C>A	XP_011537079.1:p.Leu332Ile
XM_011538778.1:c.979C>A	XP_011537080.1:p.Leu327Ile
XM_011538779.1:c.895C>A	XP_011537081.1:p.Leu299Ile
XM_011538780.1:c.880C>A	XP_011537082.1:p.Leu294Ile
XM_011538781.1:c.328C>A	XP_011537083.1:p.Leu110Ile
XM_011538778.2:c.979C>A	XP_011537080.1:p.Leu327Ile
XM_011538780.2:c.880C>A	XP_011537082.1:p.Leu294Ile
XR_001748875.2:n.1000C>A
NM_015665.6:c.979C>A MANE Select	NP_056480.1:p.Leu327Ile
NM_001173466.2:c.880C>A	NP_001166937.1:p.Leu294Ile