Canonical Allele Identifier: CA385035202

Gene: AAAS

Linked Data

• dbSNP Id: rs1944305989
• gnomAD v4: 12-53307599-A-G
• MyVariant Identifiers: chr12:g.53701383A>G (hg19) ; chr12:g.53307599A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307599A>G , CM000674.2:g.53307599A>G	GRCh38
NC_000012.11:g.53701383A>G , CM000674.1:g.53701383A>G	GRCh37
NC_000012.10:g.51987650A>G	NCBI36
NG_016775.1:g.19030T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1531T>C MANE Select	ENSP00000209873.4:p.Ser511Pro
ENST00000546562.6:n.2595T>C
ENST00000547238.6:n.2167T>C
ENST00000547520.6:n.1647T>C
ENST00000547757.2:c.*449T>C	ENSP00000448020.2:n.*449T>C
ENST00000548931.6:c.966T>C	ENSP00000457518.1:p.Ala322=
ENST00000549450.6:n.1465T>C
ENST00000672797.1:n.2020T>C
ENST00000209873.8:c.1531T>C	ENSP00000209873.4:p.Ser511Pro
ENST00000394384.7:c.1432T>C	ENSP00000377908.3:p.Ser478Pro
ENST00000548931.5:c.966T>C	ENSP00000457518.1:p.Ala322=
ENST00000550286.5:c.1159T>C	ENSP00000446885.1:p.Ser387Pro
ENST00000552876.5:n.1874T>C
NM_001173466.1:c.1432T>C	NP_001166937.1:p.Ser478Pro
NM_015665.5:c.1531T>C	NP_056480.1:p.Ser511Pro
XM_006719617.2:c.1546T>C	XP_006719680.1:p.Ser516Pro
XM_011538777.1:c.1588T>C	XP_011537079.1:p.Ser530Pro
XM_011538778.1:c.1573T>C	XP_011537080.1:p.Ser525Pro
XM_011538779.1:c.1489T>C	XP_011537081.1:p.Ser497Pro
XM_011538780.1:c.1474T>C	XP_011537082.1:p.Ser492Pro
XM_011538781.1:c.922T>C	XP_011537083.1:p.Ser308Pro
XM_011538778.2:c.1573T>C	XP_011537080.1:p.Ser525Pro
XM_011538780.2:c.1474T>C	XP_011537082.1:p.Ser492Pro
XR_001748875.2:n.1588T>C
NM_015665.6:c.1531T>C MANE Select	NP_056480.1:p.Ser511Pro
NM_001173466.2:c.1432T>C	NP_001166937.1:p.Ser478Pro