Canonical Allele Identifier: CA385035102

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307586-A-G
• MyVariant Identifiers: chr12:g.53701370A>G (hg19) ; chr12:g.53307586A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307586A>G , CM000674.2:g.53307586A>G	GRCh38
NC_000012.11:g.53701370A>G , CM000674.1:g.53701370A>G	GRCh37
NC_000012.10:g.51987637A>G	NCBI36
NG_016775.1:g.19043T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1544T>C MANE Select	ENSP00000209873.4:p.Leu515Pro
ENST00000546562.6:n.2608T>C
ENST00000547238.6:n.2180T>C
ENST00000547520.6:n.1660T>C
ENST00000547757.2:c.*462T>C	ENSP00000448020.2:n.*462T>C
ENST00000548931.6:c.979T>C	ENSP00000457518.1:p.Cys327Arg
ENST00000549450.6:n.1478T>C
ENST00000672797.1:n.2033T>C
ENST00000209873.8:c.1544T>C	ENSP00000209873.4:p.Leu515Pro
ENST00000394384.7:c.1445T>C	ENSP00000377908.3:p.Leu482Pro
ENST00000548931.5:c.979T>C	ENSP00000457518.1:p.Cys327Arg
ENST00000550286.5:c.1172T>C	ENSP00000446885.1:p.Leu391Pro
ENST00000552876.5:n.1887T>C
NM_001173466.1:c.1445T>C	NP_001166937.1:p.Leu482Pro
NM_015665.5:c.1544T>C	NP_056480.1:p.Leu515Pro
XM_006719617.2:c.1559T>C	XP_006719680.1:p.Leu520Pro
XM_011538777.1:c.1601T>C	XP_011537079.1:p.Leu534Pro
XM_011538778.1:c.1586T>C	XP_011537080.1:p.Leu529Pro
XM_011538779.1:c.1502T>C	XP_011537081.1:p.Leu501Pro
XM_011538780.1:c.1487T>C	XP_011537082.1:p.Leu496Pro
XM_011538781.1:c.935T>C	XP_011537083.1:p.Leu312Pro
XM_011538778.2:c.1586T>C	XP_011537080.1:p.Leu529Pro
XM_011538780.2:c.1487T>C	XP_011537082.1:p.Leu496Pro
XR_001748875.2:n.1601T>C
NM_015665.6:c.1544T>C MANE Select	NP_056480.1:p.Leu515Pro
NM_001173466.2:c.1445T>C	NP_001166937.1:p.Leu482Pro