Canonical Allele Identifier: CA385041018

Gene: AAAS

Linked Data

• dbSNP Id: rs1405946513
• gnomAD v2: 12-53702748-C-G
• gnomAD v4: 12-53308964-C-G
• MyVariant Identifiers: chr12:g.53702748C>G (hg19) ; chr12:g.53308964C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308964C>G , CM000674.2:g.53308964C>G	GRCh38
NC_000012.11:g.53702748C>G , CM000674.1:g.53702748C>G	GRCh37
NC_000012.10:g.51989015C>G	NCBI36
NG_016775.1:g.17665G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.992G>C MANE Select	ENSP00000209873.4:p.Cys331Ser
ENST00000546393.7:n.1837G>C
ENST00000546562.6:n.2056G>C
ENST00000547238.6:n.1628G>C
ENST00000547520.6:n.986G>C
ENST00000547757.2:c.41G>C	ENSP00000448020.2:p.Cys14Ser
ENST00000548880.2:n.1442G>C
ENST00000548931.6:c.512G>C	ENSP00000457518.1:p.Cys171Ser
ENST00000549450.6:n.926G>C
ENST00000552161.6:n.1948G>C
ENST00000672797.1:n.1445G>C
ENST00000672900.1:n.1790G>C
ENST00000209873.8:c.992G>C	ENSP00000209873.4:p.Cys331Ser
ENST00000394384.7:c.893G>C	ENSP00000377908.3:p.Cys298Ser
ENST00000546572.1:n.580G>C
ENST00000547520.5:n.696G>C
ENST00000548931.5:c.512G>C	ENSP00000457518.1:p.Cys171Ser
ENST00000550033.5:n.247G>C
ENST00000550286.5:c.620G>C	ENSP00000446885.1:p.Cys207Ser
ENST00000552876.5:n.1335G>C
NM_001173466.1:c.893G>C	NP_001166937.1:p.Cys298Ser
NM_015665.5:c.992G>C	NP_056480.1:p.Cys331Ser
XM_006719617.2:c.1007G>C	XP_006719680.1:p.Cys336Ser
XM_006719619.2:c.1007G>C	XP_006719682.1:p.Cys336Ser
XM_011538777.1:c.1007G>C	XP_011537079.1:p.Cys336Ser
XM_011538778.1:c.992G>C	XP_011537080.1:p.Cys331Ser
XM_011538779.1:c.908G>C	XP_011537081.1:p.Cys303Ser
XM_011538780.1:c.893G>C	XP_011537082.1:p.Cys298Ser
XM_011538781.1:c.341G>C	XP_011537083.1:p.Cys114Ser
XM_011538778.2:c.992G>C	XP_011537080.1:p.Cys331Ser
XM_011538780.2:c.893G>C	XP_011537082.1:p.Cys298Ser
XR_001748875.2:n.1013G>C
NM_015665.6:c.992G>C MANE Select	NP_056480.1:p.Cys331Ser
NM_001173466.2:c.893G>C	NP_001166937.1:p.Cys298Ser