Canonical Allele Identifier: CA385035395

Gene: AAAS

Linked Data

• dbSNP Id: rs774345791
• MyVariant Identifiers: chr12:g.53701415C>G (hg19) ; chr12:g.53307631C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307631C>G , CM000674.2:g.53307631C>G	GRCh38
NC_000012.11:g.53701415C>G , CM000674.1:g.53701415C>G	GRCh37
NC_000012.10:g.51987682C>G	NCBI36
NG_016775.1:g.18998G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1499G>C MANE Select	ENSP00000209873.4:p.Arg500Pro
ENST00000546562.6:n.2563G>C
ENST00000547238.6:n.2135G>C
ENST00000547520.6:n.1615G>C
ENST00000547757.2:c.*417G>C	ENSP00000448020.2:n.*417G>C
ENST00000548931.6:c.934G>C	ENSP00000457518.1:p.Gly312Arg
ENST00000549450.6:n.1433G>C
ENST00000672797.1:n.1988G>C
ENST00000209873.8:c.1499G>C	ENSP00000209873.4:p.Arg500Pro
ENST00000394384.7:c.1400G>C	ENSP00000377908.3:p.Arg467Pro
ENST00000548931.5:c.934G>C	ENSP00000457518.1:p.Gly312Arg
ENST00000550286.5:c.1127G>C	ENSP00000446885.1:p.Arg376Pro
ENST00000552876.5:n.1842G>C
NM_001173466.1:c.1400G>C	NP_001166937.1:p.Arg467Pro
NM_015665.5:c.1499G>C	NP_056480.1:p.Arg500Pro
XM_006719617.2:c.1514G>C	XP_006719680.1:p.Arg505Pro
XM_011538777.1:c.1556G>C	XP_011537079.1:p.Arg519Pro
XM_011538778.1:c.1541G>C	XP_011537080.1:p.Arg514Pro
XM_011538779.1:c.1457G>C	XP_011537081.1:p.Arg486Pro
XM_011538780.1:c.1442G>C	XP_011537082.1:p.Arg481Pro
XM_011538781.1:c.890G>C	XP_011537083.1:p.Arg297Pro
XM_011538778.2:c.1541G>C	XP_011537080.1:p.Arg514Pro
XM_011538780.2:c.1442G>C	XP_011537082.1:p.Arg481Pro
XR_001748875.2:n.1556G>C
NM_015665.6:c.1499G>C MANE Select	NP_056480.1:p.Arg500Pro
NM_001173466.2:c.1400G>C	NP_001166937.1:p.Arg467Pro