Canonical Allele Identifier: CA385034606

Gene: AAAS

Linked Data

• dbSNP Id: rs1364034616
• gnomAD v2: 12-53701307-G-C
• gnomAD v4: 12-53307523-G-C
• MyVariant Identifiers: chr12:g.53701307G>C (hg19) ; chr12:g.53307523G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307523G>C , CM000674.2:g.53307523G>C	GRCh38
NC_000012.11:g.53701307G>C , CM000674.1:g.53701307G>C	GRCh37
NC_000012.10:g.51987574G>C	NCBI36
NG_016775.1:g.19106C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1607C>G MANE Select	ENSP00000209873.4:p.Pro536Arg
ENST00000546562.6:n.2671C>G
ENST00000547238.6:n.2243C>G
ENST00000547757.2:c.*525C>G	ENSP00000448020.2:n.*525C>G
ENST00000548931.6:c.1042C>G	ENSP00000457518.1:p.Leu348Val
ENST00000549450.6:n.1541C>G
ENST00000672797.1:n.2096C>G
ENST00000209873.8:c.1607C>G	ENSP00000209873.4:p.Pro536Arg
ENST00000394384.7:c.1508C>G	ENSP00000377908.3:p.Pro503Arg
ENST00000548931.5:c.1042C>G	ENSP00000457518.1:p.Leu348Val
ENST00000550286.5:c.1235C>G	ENSP00000446885.1:p.Pro412Arg
ENST00000552876.5:n.1950C>G
NM_001173466.1:c.1508C>G	NP_001166937.1:p.Pro503Arg
NM_015665.5:c.1607C>G	NP_056480.1:p.Pro536Arg
XM_006719617.2:c.1622C>G	XP_006719680.1:p.Pro541Arg
XM_011538777.1:c.1664C>G	XP_011537079.1:p.Pro555Arg
XM_011538778.1:c.1649C>G	XP_011537080.1:p.Pro550Arg
XM_011538779.1:c.1565C>G	XP_011537081.1:p.Pro522Arg
XM_011538780.1:c.1550C>G	XP_011537082.1:p.Pro517Arg
XM_011538781.1:c.998C>G	XP_011537083.1:p.Pro333Arg
XM_011538778.2:c.1649C>G	XP_011537080.1:p.Pro550Arg
XM_011538780.2:c.1550C>G	XP_011537082.1:p.Pro517Arg
XR_001748875.2:n.1664C>G
NM_015665.6:c.1607C>G MANE Select	NP_056480.1:p.Pro536Arg
NM_001173466.2:c.1508C>G	NP_001166937.1:p.Pro503Arg