Canonical Allele Identifier: CA385040838

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702595C>G (hg19) ; chr12:g.53308811C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308811C>G , CM000674.2:g.53308811C>G	GRCh38
NC_000012.11:g.53702595C>G , CM000674.1:g.53702595C>G	GRCh37
NC_000012.10:g.51988862C>G	NCBI36
NG_016775.1:g.17818G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1001G>C MANE Select	ENSP00000209873.4:p.Gly334Ala
ENST00000546393.7:n.1846G>C
ENST00000546562.6:n.2065G>C
ENST00000547238.6:n.1637G>C
ENST00000547520.6:n.995G>C
ENST00000547757.2:c.50G>C	ENSP00000448020.2:p.Gly17Ala
ENST00000548880.2:n.1451G>C
ENST00000548931.6:c.521G>C	ENSP00000457518.1:p.Gly174Ala
ENST00000549450.6:n.935G>C
ENST00000552161.6:n.1957G>C
ENST00000672797.1:n.1490G>C
ENST00000672900.1:n.1943G>C
ENST00000209873.8:c.1001G>C	ENSP00000209873.4:p.Gly334Ala
ENST00000394384.7:c.902G>C	ENSP00000377908.3:p.Gly301Ala
ENST00000547520.5:n.705G>C
ENST00000548931.5:c.521G>C	ENSP00000457518.1:p.Gly174Ala
ENST00000550033.5:n.256G>C
ENST00000550286.5:c.629G>C	ENSP00000446885.1:p.Gly210Ala
ENST00000552876.5:n.1344G>C
NM_001173466.1:c.902G>C	NP_001166937.1:p.Gly301Ala
NM_015665.5:c.1001G>C	NP_056480.1:p.Gly334Ala
XM_006719617.2:c.1016G>C	XP_006719680.1:p.Gly339Ala
XM_006719619.2:c.*11G>C	XP_006719682.1:n.*11G>C
XM_011538777.1:c.1016G>C	XP_011537079.1:p.Gly339Ala
XM_011538778.1:c.1001G>C	XP_011537080.1:p.Gly334Ala
XM_011538779.1:c.917G>C	XP_011537081.1:p.Gly306Ala
XM_011538780.1:c.902G>C	XP_011537082.1:p.Gly301Ala
XM_011538781.1:c.350G>C	XP_011537083.1:p.Gly117Ala
XM_011538778.2:c.1001G>C	XP_011537080.1:p.Gly334Ala
XM_011538780.2:c.902G>C	XP_011537082.1:p.Gly301Ala
XR_001748875.2:n.1058G>C
NM_015665.6:c.1001G>C MANE Select	NP_056480.1:p.Gly334Ala
NM_001173466.2:c.902G>C	NP_001166937.1:p.Gly301Ala