Canonical Allele Identifier: CA6599077

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309273A>G , CM000674.2:g.53309273A>G	GRCh38
NC_000012.11:g.53703057A>G , CM000674.1:g.53703057A>G	GRCh37
NC_000012.10:g.51989324A>G	NCBI36
NG_016775.1:g.17356T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015665.6:c.819T>C MANE Select	NP_056480.1:p.Asp273=
ENST00000209873.9:c.819T>C MANE Select	ENSP00000209873.4:p.Asp273=
NM_001173466.1:c.720T>C	NP_001166937.1:p.Asp240=
NM_001173466.2:c.720T>C	NP_001166937.1:p.Asp240=
NM_015665.5:c.819T>C	NP_056480.1:p.Asp273=
ENST00000209873.8:c.819T>C	ENSP00000209873.4:p.Asp273=
ENST00000394384.7:c.720T>C	ENSP00000377908.3:p.Asp240=
ENST00000546393.6:n.716T>C
ENST00000546393.7:n.1664T>C
ENST00000546562.6:n.1883T>C
ENST00000546572.1:n.271T>C
ENST00000547238.6:n.1455T>C
ENST00000547520.5:n.523T>C
ENST00000547520.6:n.813T>C
ENST00000547757.1:c.720T>C	ENSP00000448020.1:p.Asp240=
ENST00000547757.2:c.-133T>C	ENSP00000448020.2:n.-133T>C
ENST00000547761.6:n.711T>C
ENST00000548880.2:n.1269T>C
ENST00000548931.5:c.339T>C	ENSP00000457518.1:p.Asp113=
ENST00000548931.6:c.339T>C	ENSP00000457518.1:p.Asp113=
ENST00000549450.6:n.753T>C
ENST00000549983.5:n.842T>C
ENST00000550033.5:n.74T>C
ENST00000550286.5:c.447T>C	ENSP00000446885.1:p.Asp149=
ENST00000552161.6:n.1775T>C
ENST00000552876.5:n.1162T>C
ENST00000672797.1:n.1272T>C
ENST00000672900.1:n.1617T>C
XM_006719617.2:c.834T>C	XP_006719680.1:p.Asp278=
XM_006719619.2:c.834T>C	XP_006719682.1:p.Asp278=
XM_011538777.1:c.834T>C	XP_011537079.1:p.Asp278=
XM_011538778.1:c.819T>C	XP_011537080.1:p.Asp273=
XM_011538778.2:c.819T>C	XP_011537080.1:p.Asp273=
XM_011538779.1:c.735T>C	XP_011537081.1:p.Asp245=
XM_011538780.1:c.720T>C	XP_011537082.1:p.Asp240=
XM_011538780.2:c.720T>C	XP_011537082.1:p.Asp240=
XM_011538781.1:c.168T>C	XP_011537083.1:p.Asp56=
XR_001748875.2:n.840T>C