Canonical Allele Identifier: CA385040646

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702573G>T (hg19) ; chr12:g.53308789G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308789G>T , CM000674.2:g.53308789G>T	GRCh38
NC_000012.11:g.53702573G>T , CM000674.1:g.53702573G>T	GRCh37
NC_000012.10:g.51988840G>T	NCBI36
NG_016775.1:g.17840C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1023C>A MANE Select	ENSP00000209873.4:p.Ser341Arg
ENST00000546393.7:n.1868C>A
ENST00000546562.6:n.2087C>A
ENST00000547238.6:n.1659C>A
ENST00000547520.6:n.1017C>A
ENST00000547757.2:c.72C>A	ENSP00000448020.2:p.Ser24Arg
ENST00000548880.2:n.1473C>A
ENST00000548931.6:c.543C>A	ENSP00000457518.1:p.Ser181Arg
ENST00000549450.6:n.957C>A
ENST00000552161.6:n.1979C>A
ENST00000672797.1:n.1512C>A
ENST00000672900.1:n.1965C>A
ENST00000209873.8:c.1023C>A	ENSP00000209873.4:p.Ser341Arg
ENST00000394384.7:c.924C>A	ENSP00000377908.3:p.Ser308Arg
ENST00000547520.5:n.727C>A
ENST00000548931.5:c.543C>A	ENSP00000457518.1:p.Ser181Arg
ENST00000550033.5:n.278C>A
ENST00000550286.5:c.651C>A	ENSP00000446885.1:p.Ser217Arg
ENST00000552876.5:n.1366C>A
NM_001173466.1:c.924C>A	NP_001166937.1:p.Ser308Arg
NM_015665.5:c.1023C>A	NP_056480.1:p.Ser341Arg
XM_006719617.2:c.1038C>A	XP_006719680.1:p.Ser346Arg
XM_006719619.2:c.*33C>A	XP_006719682.1:n.*33C>A
XM_011538777.1:c.1038C>A	XP_011537079.1:p.Ser346Arg
XM_011538778.1:c.1023C>A	XP_011537080.1:p.Ser341Arg
XM_011538779.1:c.939C>A	XP_011537081.1:p.Ser313Arg
XM_011538780.1:c.924C>A	XP_011537082.1:p.Ser308Arg
XM_011538781.1:c.372C>A	XP_011537083.1:p.Ser124Arg
XM_011538778.2:c.1023C>A	XP_011537080.1:p.Ser341Arg
XM_011538780.2:c.924C>A	XP_011537082.1:p.Ser308Arg
XR_001748875.2:n.1080C>A
NM_015665.6:c.1023C>A MANE Select	NP_056480.1:p.Ser341Arg
NM_001173466.2:c.924C>A	NP_001166937.1:p.Ser308Arg