Canonical Allele Identifier: CA385040649

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702574C>A (hg19) ; chr12:g.53308790C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308790C>A , CM000674.2:g.53308790C>A	GRCh38
NC_000012.11:g.53702574C>A , CM000674.1:g.53702574C>A	GRCh37
NC_000012.10:g.51988841C>A	NCBI36
NG_016775.1:g.17839G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1022G>T MANE Select	ENSP00000209873.4:p.Ser341Ile
ENST00000546393.7:n.1867G>T
ENST00000546562.6:n.2086G>T
ENST00000547238.6:n.1658G>T
ENST00000547520.6:n.1016G>T
ENST00000547757.2:c.71G>T	ENSP00000448020.2:p.Ser24Ile
ENST00000548880.2:n.1472G>T
ENST00000548931.6:c.542G>T	ENSP00000457518.1:p.Ser181Ile
ENST00000549450.6:n.956G>T
ENST00000552161.6:n.1978G>T
ENST00000672797.1:n.1511G>T
ENST00000672900.1:n.1964G>T
ENST00000209873.8:c.1022G>T	ENSP00000209873.4:p.Ser341Ile
ENST00000394384.7:c.923G>T	ENSP00000377908.3:p.Ser308Ile
ENST00000547520.5:n.726G>T
ENST00000548931.5:c.542G>T	ENSP00000457518.1:p.Ser181Ile
ENST00000550033.5:n.277G>T
ENST00000550286.5:c.650G>T	ENSP00000446885.1:p.Ser217Ile
ENST00000552876.5:n.1365G>T
NM_001173466.1:c.923G>T	NP_001166937.1:p.Ser308Ile
NM_015665.5:c.1022G>T	NP_056480.1:p.Ser341Ile
XM_006719617.2:c.1037G>T	XP_006719680.1:p.Ser346Ile
XM_006719619.2:c.*32G>T	XP_006719682.1:n.*32G>T
XM_011538777.1:c.1037G>T	XP_011537079.1:p.Ser346Ile
XM_011538778.1:c.1022G>T	XP_011537080.1:p.Ser341Ile
XM_011538779.1:c.938G>T	XP_011537081.1:p.Ser313Ile
XM_011538780.1:c.923G>T	XP_011537082.1:p.Ser308Ile
XM_011538781.1:c.371G>T	XP_011537083.1:p.Ser124Ile
XM_011538778.2:c.1022G>T	XP_011537080.1:p.Ser341Ile
XM_011538780.2:c.923G>T	XP_011537082.1:p.Ser308Ile
XR_001748875.2:n.1079G>T
NM_015665.6:c.1022G>T MANE Select	NP_056480.1:p.Ser341Ile
NM_001173466.2:c.923G>T	NP_001166937.1:p.Ser308Ile