Canonical Allele Identifier: CA385040738

Gene: AAAS

Linked Data

• gnomAD v4: 12-53308800-G-A
• MyVariant Identifiers: chr12:g.53702584G>A (hg19) ; chr12:g.53308800G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308800G>A , CM000674.2:g.53308800G>A	GRCh38
NC_000012.11:g.53702584G>A , CM000674.1:g.53702584G>A	GRCh37
NC_000012.10:g.51988851G>A	NCBI36
NG_016775.1:g.17829C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1012C>T MANE Select	ENSP00000209873.4:p.Pro338Ser
ENST00000546393.7:n.1857C>T
ENST00000546562.6:n.2076C>T
ENST00000547238.6:n.1648C>T
ENST00000547520.6:n.1006C>T
ENST00000547757.2:c.61C>T	ENSP00000448020.2:p.Pro21Ser
ENST00000548880.2:n.1462C>T
ENST00000548931.6:c.532C>T	ENSP00000457518.1:p.Pro178Ser
ENST00000549450.6:n.946C>T
ENST00000552161.6:n.1968C>T
ENST00000672797.1:n.1501C>T
ENST00000672900.1:n.1954C>T
ENST00000209873.8:c.1012C>T	ENSP00000209873.4:p.Pro338Ser
ENST00000394384.7:c.913C>T	ENSP00000377908.3:p.Pro305Ser
ENST00000547520.5:n.716C>T
ENST00000548931.5:c.532C>T	ENSP00000457518.1:p.Pro178Ser
ENST00000550033.5:n.267C>T
ENST00000550286.5:c.640C>T	ENSP00000446885.1:p.Pro214Ser
ENST00000552876.5:n.1355C>T
NM_001173466.1:c.913C>T	NP_001166937.1:p.Pro305Ser
NM_015665.5:c.1012C>T	NP_056480.1:p.Pro338Ser
XM_006719617.2:c.1027C>T	XP_006719680.1:p.Pro343Ser
XM_006719619.2:c.*22C>T	XP_006719682.1:n.*22C>T
XM_011538777.1:c.1027C>T	XP_011537079.1:p.Pro343Ser
XM_011538778.1:c.1012C>T	XP_011537080.1:p.Pro338Ser
XM_011538779.1:c.928C>T	XP_011537081.1:p.Pro310Ser
XM_011538780.1:c.913C>T	XP_011537082.1:p.Pro305Ser
XM_011538781.1:c.361C>T	XP_011537083.1:p.Pro121Ser
XM_011538778.2:c.1012C>T	XP_011537080.1:p.Pro338Ser
XM_011538780.2:c.913C>T	XP_011537082.1:p.Pro305Ser
XR_001748875.2:n.1069C>T
NM_015665.6:c.1012C>T MANE Select	NP_056480.1:p.Pro338Ser
NM_001173466.2:c.913C>T	NP_001166937.1:p.Pro305Ser