Canonical Allele Identifier: CA385034525

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307508-G-C
• MyVariant Identifiers: chr12:g.53701292G>C (hg19) ; chr12:g.53307508G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307508G>C , CM000674.2:g.53307508G>C	GRCh38
NC_000012.11:g.53701292G>C , CM000674.1:g.53701292G>C	GRCh37
NC_000012.10:g.51987559G>C	NCBI36
NG_016775.1:g.19121C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1622C>G MANE Select	ENSP00000209873.4:p.Ser541Cys
ENST00000546562.6:n.2686C>G
ENST00000547757.2:c.*540C>G	ENSP00000448020.2:n.*540C>G
ENST00000548931.6:c.1057C>G	ENSP00000457518.1:p.Pro353Ala
ENST00000549450.6:n.1556C>G
ENST00000209873.8:c.1622C>G	ENSP00000209873.4:p.Ser541Cys
ENST00000394384.7:c.1523C>G	ENSP00000377908.3:p.Ser508Cys
ENST00000548931.5:c.1057C>G	ENSP00000457518.1:p.Pro353Ala
ENST00000550286.5:c.1250C>G	ENSP00000446885.1:p.Ser417Cys
ENST00000552876.5:n.1965C>G
NM_001173466.1:c.1523C>G	NP_001166937.1:p.Ser508Cys
NM_015665.5:c.1622C>G	NP_056480.1:p.Ser541Cys
XM_006719617.2:c.1637C>G	XP_006719680.1:p.Ser546Cys
XM_011538777.1:c.1679C>G	XP_011537079.1:p.Ser560Cys
XM_011538778.1:c.1664C>G	XP_011537080.1:p.Ser555Cys
XM_011538779.1:c.1580C>G	XP_011537081.1:p.Ser527Cys
XM_011538780.1:c.1565C>G	XP_011537082.1:p.Ser522Cys
XM_011538781.1:c.1013C>G	XP_011537083.1:p.Ser338Cys
XM_011538778.2:c.1664C>G	XP_011537080.1:p.Ser555Cys
XM_011538780.2:c.1565C>G	XP_011537082.1:p.Ser522Cys
XR_001748875.2:n.1679C>G
NM_015665.6:c.1622C>G MANE Select	NP_056480.1:p.Ser541Cys
NM_001173466.2:c.1523C>G	NP_001166937.1:p.Ser508Cys