Canonical Allele Identifier: CA385035153

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307593-G-C
• MyVariant Identifiers: chr12:g.53701377G>C (hg19) ; chr12:g.53307593G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307593G>C , CM000674.2:g.53307593G>C	GRCh38
NC_000012.11:g.53701377G>C , CM000674.1:g.53701377G>C	GRCh37
NC_000012.10:g.51987644G>C	NCBI36
NG_016775.1:g.19036C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1537C>G MANE Select	ENSP00000209873.4:p.His513Asp
ENST00000546562.6:n.2601C>G
ENST00000547238.6:n.2173C>G
ENST00000547520.6:n.1653C>G
ENST00000547757.2:c.*455C>G	ENSP00000448020.2:n.*455C>G
ENST00000548931.6:c.972C>G	ENSP00000457518.1:p.Phe324Leu
ENST00000549450.6:n.1471C>G
ENST00000672797.1:n.2026C>G
ENST00000209873.8:c.1537C>G	ENSP00000209873.4:p.His513Asp
ENST00000394384.7:c.1438C>G	ENSP00000377908.3:p.His480Asp
ENST00000548931.5:c.972C>G	ENSP00000457518.1:p.Phe324Leu
ENST00000550286.5:c.1165C>G	ENSP00000446885.1:p.His389Asp
ENST00000552876.5:n.1880C>G
NM_001173466.1:c.1438C>G	NP_001166937.1:p.His480Asp
NM_015665.5:c.1537C>G	NP_056480.1:p.His513Asp
XM_006719617.2:c.1552C>G	XP_006719680.1:p.His518Asp
XM_011538777.1:c.1594C>G	XP_011537079.1:p.His532Asp
XM_011538778.1:c.1579C>G	XP_011537080.1:p.His527Asp
XM_011538779.1:c.1495C>G	XP_011537081.1:p.His499Asp
XM_011538780.1:c.1480C>G	XP_011537082.1:p.His494Asp
XM_011538781.1:c.928C>G	XP_011537083.1:p.His310Asp
XM_011538778.2:c.1579C>G	XP_011537080.1:p.His527Asp
XM_011538780.2:c.1480C>G	XP_011537082.1:p.His494Asp
XR_001748875.2:n.1594C>G
NM_015665.6:c.1537C>G MANE Select	NP_056480.1:p.His513Asp
NM_001173466.2:c.1438C>G	NP_001166937.1:p.His480Asp