Canonical Allele Identifier: CA385034714

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307537-G-C
• MyVariant Identifiers: chr12:g.53701321G>C (hg19) ; chr12:g.53307537G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307537G>C , CM000674.2:g.53307537G>C	GRCh38
NC_000012.11:g.53701321G>C , CM000674.1:g.53701321G>C	GRCh37
NC_000012.10:g.51987588G>C	NCBI36
NG_016775.1:g.19092C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1593C>G MANE Select	ENSP00000209873.4:p.Leu531=
ENST00000546562.6:n.2657C>G
ENST00000547238.6:n.2229C>G
ENST00000547757.2:c.*511C>G	ENSP00000448020.2:n.*511C>G
ENST00000548931.6:c.1028C>G	ENSP00000457518.1:p.Ser343Cys
ENST00000549450.6:n.1527C>G
ENST00000672797.1:n.2082C>G
ENST00000209873.8:c.1593C>G	ENSP00000209873.4:p.Leu531=
ENST00000394384.7:c.1494C>G	ENSP00000377908.3:p.Leu498=
ENST00000548931.5:c.1028C>G	ENSP00000457518.1:p.Ser343Cys
ENST00000550286.5:c.1221C>G	ENSP00000446885.1:p.Leu407=
ENST00000552876.5:n.1936C>G
NM_001173466.1:c.1494C>G	NP_001166937.1:p.Leu498=
NM_015665.5:c.1593C>G	NP_056480.1:p.Leu531=
XM_006719617.2:c.1608C>G	XP_006719680.1:p.Leu536=
XM_011538777.1:c.1650C>G	XP_011537079.1:p.Leu550=
XM_011538778.1:c.1635C>G	XP_011537080.1:p.Leu545=
XM_011538779.1:c.1551C>G	XP_011537081.1:p.Leu517=
XM_011538780.1:c.1536C>G	XP_011537082.1:p.Leu512=
XM_011538781.1:c.984C>G	XP_011537083.1:p.Leu328=
XM_011538778.2:c.1635C>G	XP_011537080.1:p.Leu545=
XM_011538780.2:c.1536C>G	XP_011537082.1:p.Leu512=
XR_001748875.2:n.1650C>G
NM_015665.6:c.1593C>G MANE Select	NP_056480.1:p.Leu531=
NM_001173466.2:c.1494C>G	NP_001166937.1:p.Leu498=