Canonical Allele Identifier: CA385040793

Gene: AAAS

Linked Data

• dbSNP Id: rs1944337829
• gnomAD v4: 12-53308804-C-T
• MyVariant Identifiers: chr12:g.53702588C>T (hg19) ; chr12:g.53308804C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308804C>T , CM000674.2:g.53308804C>T	GRCh38
NC_000012.11:g.53702588C>T , CM000674.1:g.53702588C>T	GRCh37
NC_000012.10:g.51988855C>T	NCBI36
NG_016775.1:g.17825G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1008G>A MANE Select	ENSP00000209873.4:p.Trp336Ter
ENST00000546393.7:n.1853G>A
ENST00000546562.6:n.2072G>A
ENST00000547238.6:n.1644G>A
ENST00000547520.6:n.1002G>A
ENST00000547757.2:c.57G>A	ENSP00000448020.2:p.Trp19Ter
ENST00000548880.2:n.1458G>A
ENST00000548931.6:c.528G>A	ENSP00000457518.1:p.Trp176Ter
ENST00000549450.6:n.942G>A
ENST00000552161.6:n.1964G>A
ENST00000672797.1:n.1497G>A
ENST00000672900.1:n.1950G>A
ENST00000209873.8:c.1008G>A	ENSP00000209873.4:p.Trp336Ter
ENST00000394384.7:c.909G>A	ENSP00000377908.3:p.Trp303Ter
ENST00000547520.5:n.712G>A
ENST00000548931.5:c.528G>A	ENSP00000457518.1:p.Trp176Ter
ENST00000550033.5:n.263G>A
ENST00000550286.5:c.636G>A	ENSP00000446885.1:p.Trp212Ter
ENST00000552876.5:n.1351G>A
NM_001173466.1:c.909G>A	NP_001166937.1:p.Trp303Ter
NM_015665.5:c.1008G>A	NP_056480.1:p.Trp336Ter
XM_006719617.2:c.1023G>A	XP_006719680.1:p.Trp341Ter
XM_006719619.2:c.*18G>A	XP_006719682.1:n.*18G>A
XM_011538777.1:c.1023G>A	XP_011537079.1:p.Trp341Ter
XM_011538778.1:c.1008G>A	XP_011537080.1:p.Trp336Ter
XM_011538779.1:c.924G>A	XP_011537081.1:p.Trp308Ter
XM_011538780.1:c.909G>A	XP_011537082.1:p.Trp303Ter
XM_011538781.1:c.357G>A	XP_011537083.1:p.Trp119Ter
XM_011538778.2:c.1008G>A	XP_011537080.1:p.Trp336Ter
XM_011538780.2:c.909G>A	XP_011537082.1:p.Trp303Ter
XR_001748875.2:n.1065G>A
NM_015665.6:c.1008G>A MANE Select	NP_056480.1:p.Trp336Ter
NM_001173466.2:c.909G>A	NP_001166937.1:p.Trp303Ter