Canonical Allele Identifier: CA385040150

Gene: AAAS

Linked Data

• ClinVar Variation Id: 2444430
• ClinVar RCV Id: RCV003153228
• MyVariant Identifiers: chr12:g.53702509C>T (hg19) ; chr12:g.53308725C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308725C>T , CM000674.2:g.53308725C>T	GRCh38
NC_000012.11:g.53702509C>T , CM000674.1:g.53702509C>T	GRCh37
NC_000012.10:g.51988776C>T	NCBI36
NG_016775.1:g.17904G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1087G>A MANE Select	ENSP00000209873.4:p.Gly363Ser
ENST00000546562.6:n.2151G>A
ENST00000547238.6:n.1723G>A
ENST00000547520.6:n.1081G>A
ENST00000547757.2:c.136G>A	ENSP00000448020.2:p.Gly46Ser
ENST00000548880.2:n.1537G>A
ENST00000548931.6:c.607G>A	ENSP00000457518.1:p.Gly203Ser
ENST00000549450.6:n.1021G>A
ENST00000552161.6:n.2043G>A
ENST00000672797.1:n.1576G>A
ENST00000672900.1:n.2029G>A
ENST00000209873.8:c.1087G>A	ENSP00000209873.4:p.Gly363Ser
ENST00000394384.7:c.988G>A	ENSP00000377908.3:p.Gly330Ser
ENST00000548931.5:c.607G>A	ENSP00000457518.1:p.Gly203Ser
ENST00000550033.5:n.342G>A
ENST00000550286.5:c.715G>A	ENSP00000446885.1:p.Gly239Ser
ENST00000552876.5:n.1430G>A
NM_001173466.1:c.988G>A	NP_001166937.1:p.Gly330Ser
NM_015665.5:c.1087G>A	NP_056480.1:p.Gly363Ser
XM_006719617.2:c.1102G>A	XP_006719680.1:p.Gly368Ser
XM_011538777.1:c.1102G>A	XP_011537079.1:p.Gly368Ser
XM_011538778.1:c.1087G>A	XP_011537080.1:p.Gly363Ser
XM_011538779.1:c.1003G>A	XP_011537081.1:p.Gly335Ser
XM_011538780.1:c.988G>A	XP_011537082.1:p.Gly330Ser
XM_011538781.1:c.436G>A	XP_011537083.1:p.Gly146Ser
XM_011538778.2:c.1087G>A	XP_011537080.1:p.Gly363Ser
XM_011538780.2:c.988G>A	XP_011537082.1:p.Gly330Ser
XR_001748875.2:n.1144G>A
NM_015665.6:c.1087G>A MANE Select	NP_056480.1:p.Gly363Ser
NM_001173466.2:c.988G>A	NP_001166937.1:p.Gly330Ser