Canonical Allele Identifier: CA385034623

Gene: AAAS

Linked Data

• dbSNP Id: rs1186031544
• gnomAD v2: 12-53701309-T-A
• gnomAD v3: 12-53307525-T-A
• gnomAD v4: 12-53307525-T-A
• MyVariant Identifiers: chr12:g.53701309T>A (hg19) ; chr12:g.53307525T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307525T>A , CM000674.2:g.53307525T>A	GRCh38
NC_000012.11:g.53701309T>A , CM000674.1:g.53701309T>A	GRCh37
NC_000012.10:g.51987576T>A	NCBI36
NG_016775.1:g.19104A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1605A>T MANE Select	ENSP00000209873.4:p.Pro535=
ENST00000546562.6:n.2669A>T
ENST00000547238.6:n.2241A>T
ENST00000547757.2:c.*523A>T	ENSP00000448020.2:n.*523A>T
ENST00000548931.6:c.1040A>T	ENSP00000457518.1:p.His347Leu
ENST00000549450.6:n.1539A>T
ENST00000672797.1:n.2094A>T
ENST00000209873.8:c.1605A>T	ENSP00000209873.4:p.Pro535=
ENST00000394384.7:c.1506A>T	ENSP00000377908.3:p.Pro502=
ENST00000548931.5:c.1040A>T	ENSP00000457518.1:p.His347Leu
ENST00000550286.5:c.1233A>T	ENSP00000446885.1:p.Pro411=
ENST00000552876.5:n.1948A>T
NM_001173466.1:c.1506A>T	NP_001166937.1:p.Pro502=
NM_015665.5:c.1605A>T	NP_056480.1:p.Pro535=
XM_006719617.2:c.1620A>T	XP_006719680.1:p.Pro540=
XM_011538777.1:c.1662A>T	XP_011537079.1:p.Pro554=
XM_011538778.1:c.1647A>T	XP_011537080.1:p.Pro549=
XM_011538779.1:c.1563A>T	XP_011537081.1:p.Pro521=
XM_011538780.1:c.1548A>T	XP_011537082.1:p.Pro516=
XM_011538781.1:c.996A>T	XP_011537083.1:p.Pro332=
XM_011538778.2:c.1647A>T	XP_011537080.1:p.Pro549=
XM_011538780.2:c.1548A>T	XP_011537082.1:p.Pro516=
XR_001748875.2:n.1662A>T
NM_015665.6:c.1605A>T MANE Select	NP_056480.1:p.Pro535=
NM_001173466.2:c.1506A>T	NP_001166937.1:p.Pro502=