Canonical Allele Identifier: CA6599038

Gene: AAAS

Linked Data

• dbSNP Id: rs748177964
• ExAC: 12:53702786 C / T
• gnomAD v2: 12-53702786-C-T
• gnomAD v4: 12-53309002-C-T
• MyVariant Identifiers: chr12:g.53702786C>T (hg19) ; chr12:g.53309002C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309002C>T , CM000674.2:g.53309002C>T	GRCh38
NC_000012.11:g.53702786C>T , CM000674.1:g.53702786C>T	GRCh37
NC_000012.10:g.51989053C>T	NCBI36
NG_016775.1:g.17627G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.954G>A MANE Select	ENSP00000209873.4:p.Met318Ile
ENST00000546393.7:n.1799G>A
ENST00000546562.6:n.2018G>A
ENST00000547238.6:n.1590G>A
ENST00000547520.6:n.948G>A
ENST00000547757.2:c.3G>A	ENSP00000448020.2:p.Met1Ile
ENST00000548880.2:n.1404G>A
ENST00000548931.6:c.474G>A	ENSP00000457518.1:p.Met158Ile
ENST00000549450.6:n.888G>A
ENST00000552161.6:n.1910G>A
ENST00000672797.1:n.1407G>A
ENST00000672900.1:n.1752G>A
ENST00000209873.8:c.954G>A	ENSP00000209873.4:p.Met318Ile
ENST00000394384.7:c.855G>A	ENSP00000377908.3:p.Met285Ile
ENST00000546572.1:n.542G>A
ENST00000547520.5:n.658G>A
ENST00000548931.5:c.474G>A	ENSP00000457518.1:p.Met158Ile
ENST00000550033.5:n.209G>A
ENST00000550286.5:c.582G>A	ENSP00000446885.1:p.Met194Ile
ENST00000552876.5:n.1297G>A
NM_001173466.1:c.855G>A	NP_001166937.1:p.Met285Ile
NM_015665.5:c.954G>A	NP_056480.1:p.Met318Ile
XM_006719617.2:c.969G>A	XP_006719680.1:p.Met323Ile
XM_006719619.2:c.969G>A	XP_006719682.1:p.Met323Ile
XM_011538777.1:c.969G>A	XP_011537079.1:p.Met323Ile
XM_011538778.1:c.954G>A	XP_011537080.1:p.Met318Ile
XM_011538779.1:c.870G>A	XP_011537081.1:p.Met290Ile
XM_011538780.1:c.855G>A	XP_011537082.1:p.Met285Ile
XM_011538781.1:c.303G>A	XP_011537083.1:p.Met101Ile
XM_011538778.2:c.954G>A	XP_011537080.1:p.Met318Ile
XM_011538780.2:c.855G>A	XP_011537082.1:p.Met285Ile
XR_001748875.2:n.975G>A
NM_015665.6:c.954G>A MANE Select	NP_056480.1:p.Met318Ile
NM_001173466.2:c.855G>A	NP_001166937.1:p.Met285Ile