Canonical Allele Identifier: CA237331423

Gene: AAAS

Linked Data

• dbSNP Id: rs1029967361
• gnomAD v3: 12-53309157-C-G
• gnomAD v4: 12-53309157-C-G
• MyVariant Identifiers: chr12:g.53702941C>G (hg19) ; chr12:g.53309157C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309157C>G , CM000674.2:g.53309157C>G	GRCh38
NC_000012.11:g.53702941C>G , CM000674.1:g.53702941C>G	GRCh37
NC_000012.10:g.51989208C>G	NCBI36
NG_016775.1:g.17472G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.935G>C MANE Select	ENSP00000209873.4:p.Arg312Pro
ENST00000546393.7:n.1780G>C
ENST00000546562.6:n.1999G>C
ENST00000547238.6:n.1571G>C
ENST00000547520.6:n.929G>C
ENST00000547757.2:c.-17G>C	ENSP00000448020.2:n.-17G>C
ENST00000548880.2:n.1385G>C
ENST00000548931.6:c.455G>C	ENSP00000457518.1:p.Arg152Pro
ENST00000549450.6:n.869G>C
ENST00000552161.6:n.1891G>C
ENST00000672797.1:n.1388G>C
ENST00000672900.1:n.1733G>C
ENST00000209873.8:c.935G>C	ENSP00000209873.4:p.Arg312Pro
ENST00000394384.7:c.836G>C	ENSP00000377908.3:p.Arg279Pro
ENST00000546393.6:n.832G>C
ENST00000546572.1:n.387G>C
ENST00000547520.5:n.639G>C
ENST00000547761.6:n.827G>C
ENST00000548931.5:c.455G>C	ENSP00000457518.1:p.Arg152Pro
ENST00000550033.5:n.190G>C
ENST00000550286.5:c.563G>C	ENSP00000446885.1:p.Arg188Pro
ENST00000552876.5:n.1278G>C
NM_001173466.1:c.836G>C	NP_001166937.1:p.Arg279Pro
NM_015665.5:c.935G>C	NP_056480.1:p.Arg312Pro
XM_006719617.2:c.950G>C	XP_006719680.1:p.Arg317Pro
XM_006719619.2:c.950G>C	XP_006719682.1:p.Arg317Pro
XM_011538777.1:c.950G>C	XP_011537079.1:p.Arg317Pro
XM_011538778.1:c.935G>C	XP_011537080.1:p.Arg312Pro
XM_011538779.1:c.851G>C	XP_011537081.1:p.Arg284Pro
XM_011538780.1:c.836G>C	XP_011537082.1:p.Arg279Pro
XM_011538781.1:c.284G>C	XP_011537083.1:p.Arg95Pro
XM_011538778.2:c.935G>C	XP_011537080.1:p.Arg312Pro
XM_011538780.2:c.836G>C	XP_011537082.1:p.Arg279Pro
XR_001748875.2:n.956G>C
NM_015665.6:c.935G>C MANE Select	NP_056480.1:p.Arg312Pro
NM_001173466.2:c.836G>C	NP_001166937.1:p.Arg279Pro