Canonical Allele Identifier: CA385040290

Gene: AAAS

Linked Data

• dbSNP Id: rs1944336176
• gnomAD v4: 12-53308740-A-G
• MyVariant Identifiers: chr12:g.53702524A>G (hg19) ; chr12:g.53308740A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308740A>G , CM000674.2:g.53308740A>G	GRCh38
NC_000012.11:g.53702524A>G , CM000674.1:g.53702524A>G	GRCh37
NC_000012.10:g.51988791A>G	NCBI36
NG_016775.1:g.17889T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1072T>C MANE Select	ENSP00000209873.4:p.Phe358Leu
ENST00000546562.6:n.2136T>C
ENST00000547238.6:n.1708T>C
ENST00000547520.6:n.1066T>C
ENST00000547757.2:c.121T>C	ENSP00000448020.2:p.Phe41Leu
ENST00000548880.2:n.1522T>C
ENST00000548931.6:c.592T>C	ENSP00000457518.1:p.Phe198Leu
ENST00000549450.6:n.1006T>C
ENST00000552161.6:n.2028T>C
ENST00000672797.1:n.1561T>C
ENST00000672900.1:n.2014T>C
ENST00000209873.8:c.1072T>C	ENSP00000209873.4:p.Phe358Leu
ENST00000394384.7:c.973T>C	ENSP00000377908.3:p.Phe325Leu
ENST00000548931.5:c.592T>C	ENSP00000457518.1:p.Phe198Leu
ENST00000550033.5:n.327T>C
ENST00000550286.5:c.700T>C	ENSP00000446885.1:p.Phe234Leu
ENST00000552876.5:n.1415T>C
NM_001173466.1:c.973T>C	NP_001166937.1:p.Phe325Leu
NM_015665.5:c.1072T>C	NP_056480.1:p.Phe358Leu
XM_006719617.2:c.1087T>C	XP_006719680.1:p.Phe363Leu
XM_011538777.1:c.1087T>C	XP_011537079.1:p.Phe363Leu
XM_011538778.1:c.1072T>C	XP_011537080.1:p.Phe358Leu
XM_011538779.1:c.988T>C	XP_011537081.1:p.Phe330Leu
XM_011538780.1:c.973T>C	XP_011537082.1:p.Phe325Leu
XM_011538781.1:c.421T>C	XP_011537083.1:p.Phe141Leu
XM_011538778.2:c.1072T>C	XP_011537080.1:p.Phe358Leu
XM_011538780.2:c.973T>C	XP_011537082.1:p.Phe325Leu
XR_001748875.2:n.1129T>C
NM_015665.6:c.1072T>C MANE Select	NP_056480.1:p.Phe358Leu
NM_001173466.2:c.973T>C	NP_001166937.1:p.Phe325Leu