Canonical Allele Identifier: CA237331370

Gene: AAAS

Linked Data

• dbSNP Id: rs377673792
• gnomAD v3: 12-53309005-C-G
• gnomAD v4: 12-53309005-C-G
• MyVariant Identifiers: chr12:g.53702789C>G (hg19) ; chr12:g.53309005C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309005C>G , CM000674.2:g.53309005C>G	GRCh38
NC_000012.11:g.53702789C>G , CM000674.1:g.53702789C>G	GRCh37
NC_000012.10:g.51989056C>G	NCBI36
NG_016775.1:g.17624G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.951G>C MANE Select	ENSP00000209873.4:p.Gln317His
ENST00000546393.7:n.1796G>C
ENST00000546562.6:n.2015G>C
ENST00000547238.6:n.1587G>C
ENST00000547520.6:n.945G>C
ENST00000547757.2:c.-1G>C	ENSP00000448020.2:n.-1G>C
ENST00000548880.2:n.1401G>C
ENST00000548931.6:c.471G>C	ENSP00000457518.1:p.Gln157His
ENST00000549450.6:n.885G>C
ENST00000552161.6:n.1907G>C
ENST00000672797.1:n.1404G>C
ENST00000672900.1:n.1749G>C
ENST00000209873.8:c.951G>C	ENSP00000209873.4:p.Gln317His
ENST00000394384.7:c.852G>C	ENSP00000377908.3:p.Gln284His
ENST00000546572.1:n.539G>C
ENST00000547520.5:n.655G>C
ENST00000548931.5:c.471G>C	ENSP00000457518.1:p.Gln157His
ENST00000550033.5:n.206G>C
ENST00000550286.5:c.579G>C	ENSP00000446885.1:p.Gln193His
ENST00000552876.5:n.1294G>C
NM_001173466.1:c.852G>C	NP_001166937.1:p.Gln284His
NM_015665.5:c.951G>C	NP_056480.1:p.Gln317His
XM_006719617.2:c.966G>C	XP_006719680.1:p.Gln322His
XM_006719619.2:c.966G>C	XP_006719682.1:p.Gln322His
XM_011538777.1:c.966G>C	XP_011537079.1:p.Gln322His
XM_011538778.1:c.951G>C	XP_011537080.1:p.Gln317His
XM_011538779.1:c.867G>C	XP_011537081.1:p.Gln289His
XM_011538780.1:c.852G>C	XP_011537082.1:p.Gln284His
XM_011538781.1:c.300G>C	XP_011537083.1:p.Gln100His
XM_011538778.2:c.951G>C	XP_011537080.1:p.Gln317His
XM_011538780.2:c.852G>C	XP_011537082.1:p.Gln284His
XR_001748875.2:n.972G>C
NM_015665.6:c.951G>C MANE Select	NP_056480.1:p.Gln317His
NM_001173466.2:c.852G>C	NP_001166937.1:p.Gln284His