Canonical Allele Identifier: CA385041643

Gene: AAAS

Linked Data

• gnomAD v4: 12-53309167-C-A
• MyVariant Identifiers: chr12:g.53702951C>A (hg19) ; chr12:g.53309167C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309167C>A , CM000674.2:g.53309167C>A	GRCh38
NC_000012.11:g.53702951C>A , CM000674.1:g.53702951C>A	GRCh37
NC_000012.10:g.51989218C>A	NCBI36
NG_016775.1:g.17462G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.925G>T MANE Select	ENSP00000209873.4:p.Ala309Ser
ENST00000546393.7:n.1770G>T
ENST00000546562.6:n.1989G>T
ENST00000547238.6:n.1561G>T
ENST00000547520.6:n.919G>T
ENST00000547757.2:c.-27G>T	ENSP00000448020.2:n.-27G>T
ENST00000548880.2:n.1375G>T
ENST00000548931.6:c.445G>T	ENSP00000457518.1:p.Ala149Ser
ENST00000549450.6:n.859G>T
ENST00000552161.6:n.1881G>T
ENST00000672797.1:n.1378G>T
ENST00000672900.1:n.1723G>T
ENST00000209873.8:c.925G>T	ENSP00000209873.4:p.Ala309Ser
ENST00000394384.7:c.826G>T	ENSP00000377908.3:p.Ala276Ser
ENST00000546393.6:n.822G>T
ENST00000546572.1:n.377G>T
ENST00000547520.5:n.629G>T
ENST00000547757.1:c.826G>T	ENSP00000448020.1:p.Ala276Ser
ENST00000547761.6:n.817G>T
ENST00000548931.5:c.445G>T	ENSP00000457518.1:p.Ala149Ser
ENST00000550033.5:n.180G>T
ENST00000550286.5:c.553G>T	ENSP00000446885.1:p.Ala185Ser
ENST00000552876.5:n.1268G>T
NM_001173466.1:c.826G>T	NP_001166937.1:p.Ala276Ser
NM_015665.5:c.925G>T	NP_056480.1:p.Ala309Ser
XM_006719617.2:c.940G>T	XP_006719680.1:p.Ala314Ser
XM_006719619.2:c.940G>T	XP_006719682.1:p.Ala314Ser
XM_011538777.1:c.940G>T	XP_011537079.1:p.Ala314Ser
XM_011538778.1:c.925G>T	XP_011537080.1:p.Ala309Ser
XM_011538779.1:c.841G>T	XP_011537081.1:p.Ala281Ser
XM_011538780.1:c.826G>T	XP_011537082.1:p.Ala276Ser
XM_011538781.1:c.274G>T	XP_011537083.1:p.Ala92Ser
XM_011538778.2:c.925G>T	XP_011537080.1:p.Ala309Ser
XM_011538780.2:c.826G>T	XP_011537082.1:p.Ala276Ser
XR_001748875.2:n.946G>T
NM_015665.6:c.925G>T MANE Select	NP_056480.1:p.Ala309Ser
NM_001173466.2:c.826G>T	NP_001166937.1:p.Ala276Ser