Canonical Allele Identifier: CA385036857

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307653-G-C
• MyVariant Identifiers: chr12:g.53701437G>C (hg19) ; chr12:g.53307653G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307653G>C , CM000674.2:g.53307653G>C	GRCh38
NC_000012.11:g.53701437G>C , CM000674.1:g.53701437G>C	GRCh37
NC_000012.10:g.51987704G>C	NCBI36
NG_016775.1:g.18976C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1477C>G MANE Select	ENSP00000209873.4:p.Arg493Gly
ENST00000546562.6:n.2541C>G
ENST00000547238.6:n.2113C>G
ENST00000547520.6:n.1593C>G
ENST00000547757.2:c.*395C>G	ENSP00000448020.2:n.*395C>G
ENST00000548880.2:n.1927C>G
ENST00000548931.6:c.912C>G	ENSP00000457518.1:p.His304Gln
ENST00000549450.6:n.1411C>G
ENST00000552161.6:n.2555C>G
ENST00000672797.1:n.1966C>G
ENST00000209873.8:c.1477C>G	ENSP00000209873.4:p.Arg493Gly
ENST00000394384.7:c.1378C>G	ENSP00000377908.3:p.Arg460Gly
ENST00000548931.5:c.912C>G	ENSP00000457518.1:p.His304Gln
ENST00000550286.5:c.1105C>G	ENSP00000446885.1:p.Arg369Gly
ENST00000552876.5:n.1820C>G
NM_001173466.1:c.1378C>G	NP_001166937.1:p.Arg460Gly
NM_015665.5:c.1477C>G	NP_056480.1:p.Arg493Gly
XM_006719617.2:c.1492C>G	XP_006719680.1:p.Arg498Gly
XM_011538777.1:c.1534C>G	XP_011537079.1:p.Arg512Gly
XM_011538778.1:c.1519C>G	XP_011537080.1:p.Arg507Gly
XM_011538779.1:c.1435C>G	XP_011537081.1:p.Arg479Gly
XM_011538780.1:c.1420C>G	XP_011537082.1:p.Arg474Gly
XM_011538781.1:c.868C>G	XP_011537083.1:p.Arg290Gly
XM_011538778.2:c.1519C>G	XP_011537080.1:p.Arg507Gly
XM_011538780.2:c.1420C>G	XP_011537082.1:p.Arg474Gly
XR_001748875.2:n.1534C>G
NM_015665.6:c.1477C>G MANE Select	NP_056480.1:p.Arg493Gly
NM_001173466.2:c.1378C>G	NP_001166937.1:p.Arg460Gly