Canonical Allele Identifier: CA385034566

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701301A>G (hg19) ; chr12:g.53307517A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307517A>G , CM000674.2:g.53307517A>G	GRCh38
NC_000012.11:g.53701301A>G , CM000674.1:g.53701301A>G	GRCh37
NC_000012.10:g.51987568A>G	NCBI36
NG_016775.1:g.19112T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1613T>C MANE Select	ENSP00000209873.4:p.Leu538Pro
ENST00000546562.6:n.2677T>C
ENST00000547757.2:c.*531T>C	ENSP00000448020.2:n.*531T>C
ENST00000548931.6:c.1048T>C	ENSP00000457518.1:p.Cys350Arg
ENST00000549450.6:n.1547T>C
ENST00000209873.8:c.1613T>C	ENSP00000209873.4:p.Leu538Pro
ENST00000394384.7:c.1514T>C	ENSP00000377908.3:p.Leu505Pro
ENST00000548931.5:c.1048T>C	ENSP00000457518.1:p.Cys350Arg
ENST00000550286.5:c.1241T>C	ENSP00000446885.1:p.Leu414Pro
ENST00000552876.5:n.1956T>C
NM_001173466.1:c.1514T>C	NP_001166937.1:p.Leu505Pro
NM_015665.5:c.1613T>C	NP_056480.1:p.Leu538Pro
XM_006719617.2:c.1628T>C	XP_006719680.1:p.Leu543Pro
XM_011538777.1:c.1670T>C	XP_011537079.1:p.Leu557Pro
XM_011538778.1:c.1655T>C	XP_011537080.1:p.Leu552Pro
XM_011538779.1:c.1571T>C	XP_011537081.1:p.Leu524Pro
XM_011538780.1:c.1556T>C	XP_011537082.1:p.Leu519Pro
XM_011538781.1:c.1004T>C	XP_011537083.1:p.Leu335Pro
XM_011538778.2:c.1655T>C	XP_011537080.1:p.Leu552Pro
XM_011538780.2:c.1556T>C	XP_011537082.1:p.Leu519Pro
XR_001748875.2:n.1670T>C
NM_015665.6:c.1613T>C MANE Select	NP_056480.1:p.Leu538Pro
NM_001173466.2:c.1514T>C	NP_001166937.1:p.Leu505Pro