Canonical Allele Identifier: CA385040504

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702552C>G (hg19) ; chr12:g.53308768C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308768C>G , CM000674.2:g.53308768C>G	GRCh38
NC_000012.11:g.53702552C>G , CM000674.1:g.53702552C>G	GRCh37
NC_000012.10:g.51988819C>G	NCBI36
NG_016775.1:g.17861G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1044G>C MANE Select	ENSP00000209873.4:p.Leu348Phe
ENST00000546562.6:n.2108G>C
ENST00000547238.6:n.1680G>C
ENST00000547520.6:n.1038G>C
ENST00000547757.2:c.93G>C	ENSP00000448020.2:p.Leu31Phe
ENST00000548880.2:n.1494G>C
ENST00000548931.6:c.564G>C	ENSP00000457518.1:p.Leu188Phe
ENST00000549450.6:n.978G>C
ENST00000552161.6:n.2000G>C
ENST00000672797.1:n.1533G>C
ENST00000672900.1:n.1986G>C
ENST00000209873.8:c.1044G>C	ENSP00000209873.4:p.Leu348Phe
ENST00000394384.7:c.945G>C	ENSP00000377908.3:p.Leu315Phe
ENST00000547520.5:n.748G>C
ENST00000548931.5:c.564G>C	ENSP00000457518.1:p.Leu188Phe
ENST00000550033.5:n.299G>C
ENST00000550286.5:c.672G>C	ENSP00000446885.1:p.Leu224Phe
ENST00000552876.5:n.1387G>C
NM_001173466.1:c.945G>C	NP_001166937.1:p.Leu315Phe
NM_015665.5:c.1044G>C	NP_056480.1:p.Leu348Phe
XM_006719617.2:c.1059G>C	XP_006719680.1:p.Leu353Phe
XM_006719619.2:c.*54G>C	XP_006719682.1:n.*54G>C
XM_011538777.1:c.1059G>C	XP_011537079.1:p.Leu353Phe
XM_011538778.1:c.1044G>C	XP_011537080.1:p.Leu348Phe
XM_011538779.1:c.960G>C	XP_011537081.1:p.Leu320Phe
XM_011538780.1:c.945G>C	XP_011537082.1:p.Leu315Phe
XM_011538781.1:c.393G>C	XP_011537083.1:p.Leu131Phe
XM_011538778.2:c.1044G>C	XP_011537080.1:p.Leu348Phe
XM_011538780.2:c.945G>C	XP_011537082.1:p.Leu315Phe
XR_001748875.2:n.1101G>C
NM_015665.6:c.1044G>C MANE Select	NP_056480.1:p.Leu348Phe
NM_001173466.2:c.945G>C	NP_001166937.1:p.Leu315Phe