Canonical Allele Identifier: CA385040511

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702553A>G (hg19) ; chr12:g.53308769A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308769A>G , CM000674.2:g.53308769A>G	GRCh38
NC_000012.11:g.53702553A>G , CM000674.1:g.53702553A>G	GRCh37
NC_000012.10:g.51988820A>G	NCBI36
NG_016775.1:g.17860T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1043T>C MANE Select	ENSP00000209873.4:p.Leu348Ser
ENST00000546562.6:n.2107T>C
ENST00000547238.6:n.1679T>C
ENST00000547520.6:n.1037T>C
ENST00000547757.2:c.92T>C	ENSP00000448020.2:p.Leu31Ser
ENST00000548880.2:n.1493T>C
ENST00000548931.6:c.563T>C	ENSP00000457518.1:p.Leu188Ser
ENST00000549450.6:n.977T>C
ENST00000552161.6:n.1999T>C
ENST00000672797.1:n.1532T>C
ENST00000672900.1:n.1985T>C
ENST00000209873.8:c.1043T>C	ENSP00000209873.4:p.Leu348Ser
ENST00000394384.7:c.944T>C	ENSP00000377908.3:p.Leu315Ser
ENST00000547520.5:n.747T>C
ENST00000548931.5:c.563T>C	ENSP00000457518.1:p.Leu188Ser
ENST00000550033.5:n.298T>C
ENST00000550286.5:c.671T>C	ENSP00000446885.1:p.Leu224Ser
ENST00000552876.5:n.1386T>C
NM_001173466.1:c.944T>C	NP_001166937.1:p.Leu315Ser
NM_015665.5:c.1043T>C	NP_056480.1:p.Leu348Ser
XM_006719617.2:c.1058T>C	XP_006719680.1:p.Leu353Ser
XM_006719619.2:c.*53T>C	XP_006719682.1:n.*53T>C
XM_011538777.1:c.1058T>C	XP_011537079.1:p.Leu353Ser
XM_011538778.1:c.1043T>C	XP_011537080.1:p.Leu348Ser
XM_011538779.1:c.959T>C	XP_011537081.1:p.Leu320Ser
XM_011538780.1:c.944T>C	XP_011537082.1:p.Leu315Ser
XM_011538781.1:c.392T>C	XP_011537083.1:p.Leu131Ser
XM_011538778.2:c.1043T>C	XP_011537080.1:p.Leu348Ser
XM_011538780.2:c.944T>C	XP_011537082.1:p.Leu315Ser
XR_001748875.2:n.1100T>C
NM_015665.6:c.1043T>C MANE Select	NP_056480.1:p.Leu348Ser
NM_001173466.2:c.944T>C	NP_001166937.1:p.Leu315Ser