Canonical Allele Identifier: CA385040731

Gene: AAAS

Linked Data

• dbSNP Id: rs2121086503
• gnomAD v4: 12-53308799-G-T
• MyVariant Identifiers: chr12:g.53702583G>T (hg19) ; chr12:g.53308799G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308799G>T , CM000674.2:g.53308799G>T	GRCh38
NC_000012.11:g.53702583G>T , CM000674.1:g.53702583G>T	GRCh37
NC_000012.10:g.51988850G>T	NCBI36
NG_016775.1:g.17830C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1013C>A MANE Select	ENSP00000209873.4:p.Pro338Gln
ENST00000546393.7:n.1858C>A
ENST00000546562.6:n.2077C>A
ENST00000547238.6:n.1649C>A
ENST00000547520.6:n.1007C>A
ENST00000547757.2:c.62C>A	ENSP00000448020.2:p.Pro21Gln
ENST00000548880.2:n.1463C>A
ENST00000548931.6:c.533C>A	ENSP00000457518.1:p.Pro178Gln
ENST00000549450.6:n.947C>A
ENST00000552161.6:n.1969C>A
ENST00000672797.1:n.1502C>A
ENST00000672900.1:n.1955C>A
ENST00000209873.8:c.1013C>A	ENSP00000209873.4:p.Pro338Gln
ENST00000394384.7:c.914C>A	ENSP00000377908.3:p.Pro305Gln
ENST00000547520.5:n.717C>A
ENST00000548931.5:c.533C>A	ENSP00000457518.1:p.Pro178Gln
ENST00000550033.5:n.268C>A
ENST00000550286.5:c.641C>A	ENSP00000446885.1:p.Pro214Gln
ENST00000552876.5:n.1356C>A
NM_001173466.1:c.914C>A	NP_001166937.1:p.Pro305Gln
NM_015665.5:c.1013C>A	NP_056480.1:p.Pro338Gln
XM_006719617.2:c.1028C>A	XP_006719680.1:p.Pro343Gln
XM_006719619.2:c.*23C>A	XP_006719682.1:n.*23C>A
XM_011538777.1:c.1028C>A	XP_011537079.1:p.Pro343Gln
XM_011538778.1:c.1013C>A	XP_011537080.1:p.Pro338Gln
XM_011538779.1:c.929C>A	XP_011537081.1:p.Pro310Gln
XM_011538780.1:c.914C>A	XP_011537082.1:p.Pro305Gln
XM_011538781.1:c.362C>A	XP_011537083.1:p.Pro121Gln
XM_011538778.2:c.1013C>A	XP_011537080.1:p.Pro338Gln
XM_011538780.2:c.914C>A	XP_011537082.1:p.Pro305Gln
XR_001748875.2:n.1070C>A
NM_015665.6:c.1013C>A MANE Select	NP_056480.1:p.Pro338Gln
NM_001173466.2:c.914C>A	NP_001166937.1:p.Pro305Gln