Canonical Allele Identifier: CA385034558

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307514-G-C
• MyVariant Identifiers: chr12:g.53701298G>C (hg19) ; chr12:g.53307514G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307514G>C , CM000674.2:g.53307514G>C	GRCh38
NC_000012.11:g.53701298G>C , CM000674.1:g.53701298G>C	GRCh37
NC_000012.10:g.51987565G>C	NCBI36
NG_016775.1:g.19115C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1616C>G MANE Select	ENSP00000209873.4:p.Pro539Arg
ENST00000546562.6:n.2680C>G
ENST00000547757.2:c.*534C>G	ENSP00000448020.2:n.*534C>G
ENST00000548931.6:c.1051C>G	ENSP00000457518.1:p.Pro351Ala
ENST00000549450.6:n.1550C>G
ENST00000209873.8:c.1616C>G	ENSP00000209873.4:p.Pro539Arg
ENST00000394384.7:c.1517C>G	ENSP00000377908.3:p.Pro506Arg
ENST00000548931.5:c.1051C>G	ENSP00000457518.1:p.Pro351Ala
ENST00000550286.5:c.1244C>G	ENSP00000446885.1:p.Pro415Arg
ENST00000552876.5:n.1959C>G
NM_001173466.1:c.1517C>G	NP_001166937.1:p.Pro506Arg
NM_015665.5:c.1616C>G	NP_056480.1:p.Pro539Arg
XM_006719617.2:c.1631C>G	XP_006719680.1:p.Pro544Arg
XM_011538777.1:c.1673C>G	XP_011537079.1:p.Pro558Arg
XM_011538778.1:c.1658C>G	XP_011537080.1:p.Pro553Arg
XM_011538779.1:c.1574C>G	XP_011537081.1:p.Pro525Arg
XM_011538780.1:c.1559C>G	XP_011537082.1:p.Pro520Arg
XM_011538781.1:c.1007C>G	XP_011537083.1:p.Pro336Arg
XM_011538778.2:c.1658C>G	XP_011537080.1:p.Pro553Arg
XM_011538780.2:c.1559C>G	XP_011537082.1:p.Pro520Arg
XR_001748875.2:n.1673C>G
NM_015665.6:c.1616C>G MANE Select	NP_056480.1:p.Pro539Arg
NM_001173466.2:c.1517C>G	NP_001166937.1:p.Pro506Arg