Canonical Allele Identifier: CA385036786

Gene: AAAS

Linked Data

• dbSNP Id: rs1412568395
• gnomAD v2: 12-53701428-G-C
• gnomAD v4: 12-53307644-G-C
• MyVariant Identifiers: chr12:g.53701428G>C (hg19) ; chr12:g.53307644G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307644G>C , CM000674.2:g.53307644G>C	GRCh38
NC_000012.11:g.53701428G>C , CM000674.1:g.53701428G>C	GRCh37
NC_000012.10:g.51987695G>C	NCBI36
NG_016775.1:g.18985C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1486C>G MANE Select	ENSP00000209873.4:p.Pro496Ala
ENST00000546562.6:n.2550C>G
ENST00000547238.6:n.2122C>G
ENST00000547520.6:n.1602C>G
ENST00000547757.2:c.*404C>G	ENSP00000448020.2:n.*404C>G
ENST00000548880.2:n.1936C>G
ENST00000548931.6:c.921C>G	ENSP00000457518.1:p.Ala307=
ENST00000549450.6:n.1420C>G
ENST00000552161.6:n.2564C>G
ENST00000672797.1:n.1975C>G
ENST00000209873.8:c.1486C>G	ENSP00000209873.4:p.Pro496Ala
ENST00000394384.7:c.1387C>G	ENSP00000377908.3:p.Pro463Ala
ENST00000548931.5:c.921C>G	ENSP00000457518.1:p.Ala307=
ENST00000550286.5:c.1114C>G	ENSP00000446885.1:p.Pro372Ala
ENST00000552876.5:n.1829C>G
NM_001173466.1:c.1387C>G	NP_001166937.1:p.Pro463Ala
NM_015665.5:c.1486C>G	NP_056480.1:p.Pro496Ala
XM_006719617.2:c.1501C>G	XP_006719680.1:p.Pro501Ala
XM_011538777.1:c.1543C>G	XP_011537079.1:p.Pro515Ala
XM_011538778.1:c.1528C>G	XP_011537080.1:p.Pro510Ala
XM_011538779.1:c.1444C>G	XP_011537081.1:p.Pro482Ala
XM_011538780.1:c.1429C>G	XP_011537082.1:p.Pro477Ala
XM_011538781.1:c.877C>G	XP_011537083.1:p.Pro293Ala
XM_011538778.2:c.1528C>G	XP_011537080.1:p.Pro510Ala
XM_011538780.2:c.1429C>G	XP_011537082.1:p.Pro477Ala
XR_001748875.2:n.1543C>G
NM_015665.6:c.1486C>G MANE Select	NP_056480.1:p.Pro496Ala
NM_001173466.2:c.1387C>G	NP_001166937.1:p.Pro463Ala