Canonical Allele Identifier: CA6598996

Gene: AAAS

Linked Data

• dbSNP Id: rs371201046
• ExAC: 12:53702515 G / A
• gnomAD v2: 12-53702515-G-A
• gnomAD v3: 12-53308731-G-A
• gnomAD v4: 12-53308731-G-A
• MyVariant Identifiers: chr12:g.53702515G>A (hg19) ; chr12:g.53308731G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308731G>A , CM000674.2:g.53308731G>A	GRCh38
NC_000012.11:g.53702515G>A , CM000674.1:g.53702515G>A	GRCh37
NC_000012.10:g.51988782G>A	NCBI36
NG_016775.1:g.17898C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1081C>T MANE Select	ENSP00000209873.4:p.Arg361Cys
ENST00000546562.6:n.2145C>T
ENST00000547238.6:n.1717C>T
ENST00000547520.6:n.1075C>T
ENST00000547757.2:c.130C>T	ENSP00000448020.2:p.Arg44Cys
ENST00000548880.2:n.1531C>T
ENST00000548931.6:c.601C>T	ENSP00000457518.1:p.Arg201Cys
ENST00000549450.6:n.1015C>T
ENST00000552161.6:n.2037C>T
ENST00000672797.1:n.1570C>T
ENST00000672900.1:n.2023C>T
ENST00000209873.8:c.1081C>T	ENSP00000209873.4:p.Arg361Cys
ENST00000394384.7:c.982C>T	ENSP00000377908.3:p.Arg328Cys
ENST00000548931.5:c.601C>T	ENSP00000457518.1:p.Arg201Cys
ENST00000550033.5:n.336C>T
ENST00000550286.5:c.709C>T	ENSP00000446885.1:p.Arg237Cys
ENST00000552876.5:n.1424C>T
NM_001173466.1:c.982C>T	NP_001166937.1:p.Arg328Cys
NM_015665.5:c.1081C>T	NP_056480.1:p.Arg361Cys
XM_006719617.2:c.1096C>T	XP_006719680.1:p.Arg366Cys
XM_011538777.1:c.1096C>T	XP_011537079.1:p.Arg366Cys
XM_011538778.1:c.1081C>T	XP_011537080.1:p.Arg361Cys
XM_011538779.1:c.997C>T	XP_011537081.1:p.Arg333Cys
XM_011538780.1:c.982C>T	XP_011537082.1:p.Arg328Cys
XM_011538781.1:c.430C>T	XP_011537083.1:p.Arg144Cys
XM_011538778.2:c.1081C>T	XP_011537080.1:p.Arg361Cys
XM_011538780.2:c.982C>T	XP_011537082.1:p.Arg328Cys
XR_001748875.2:n.1138C>T
NM_015665.6:c.1081C>T MANE Select	NP_056480.1:p.Arg361Cys
NM_001173466.2:c.982C>T	NP_001166937.1:p.Arg328Cys