Canonical Allele Identifier: CA6599002

Gene: AAAS

Linked Data

• dbSNP Id: rs767296673
• ExAC: 12:53702527 A / C
• gnomAD v2: 12-53702527-A-C
• gnomAD v4: 12-53308743-A-C
• MyVariant Identifiers: chr12:g.53702527A>C (hg19) ; chr12:g.53308743A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308743A>C , CM000674.2:g.53308743A>C	GRCh38
NC_000012.11:g.53702527A>C , CM000674.1:g.53702527A>C	GRCh37
NC_000012.10:g.51988794A>C	NCBI36
NG_016775.1:g.17886T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1069T>G MANE Select	ENSP00000209873.4:p.Ser357Ala
ENST00000546562.6:n.2133T>G
ENST00000547238.6:n.1705T>G
ENST00000547520.6:n.1063T>G
ENST00000547757.2:c.118T>G	ENSP00000448020.2:p.Ser40Ala
ENST00000548880.2:n.1519T>G
ENST00000548931.6:c.589T>G	ENSP00000457518.1:p.Ser197Ala
ENST00000549450.6:n.1003T>G
ENST00000552161.6:n.2025T>G
ENST00000672797.1:n.1558T>G
ENST00000672900.1:n.2011T>G
ENST00000209873.8:c.1069T>G	ENSP00000209873.4:p.Ser357Ala
ENST00000394384.7:c.970T>G	ENSP00000377908.3:p.Ser324Ala
ENST00000548931.5:c.589T>G	ENSP00000457518.1:p.Ser197Ala
ENST00000550033.5:n.324T>G
ENST00000550286.5:c.697T>G	ENSP00000446885.1:p.Ser233Ala
ENST00000552876.5:n.1412T>G
NM_001173466.1:c.970T>G	NP_001166937.1:p.Ser324Ala
NM_015665.5:c.1069T>G	NP_056480.1:p.Ser357Ala
XM_006719617.2:c.1084T>G	XP_006719680.1:p.Ser362Ala
XM_011538777.1:c.1084T>G	XP_011537079.1:p.Ser362Ala
XM_011538778.1:c.1069T>G	XP_011537080.1:p.Ser357Ala
XM_011538779.1:c.985T>G	XP_011537081.1:p.Ser329Ala
XM_011538780.1:c.970T>G	XP_011537082.1:p.Ser324Ala
XM_011538781.1:c.418T>G	XP_011537083.1:p.Ser140Ala
XM_011538778.2:c.1069T>G	XP_011537080.1:p.Ser357Ala
XM_011538780.2:c.970T>G	XP_011537082.1:p.Ser324Ala
XR_001748875.2:n.1126T>G
NM_015665.6:c.1069T>G MANE Select	NP_056480.1:p.Ser357Ala
NM_001173466.2:c.970T>G	NP_001166937.1:p.Ser324Ala