Canonical Allele Identifier: CA385041101

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702758A>G (hg19) ; chr12:g.53308974A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308974A>G , CM000674.2:g.53308974A>G	GRCh38
NC_000012.11:g.53702758A>G , CM000674.1:g.53702758A>G	GRCh37
NC_000012.10:g.51989025A>G	NCBI36
NG_016775.1:g.17655T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.982T>C MANE Select	ENSP00000209873.4:p.Ser328Pro
ENST00000546393.7:n.1827T>C
ENST00000546562.6:n.2046T>C
ENST00000547238.6:n.1618T>C
ENST00000547520.6:n.976T>C
ENST00000547757.2:c.31T>C	ENSP00000448020.2:p.Ser11Pro
ENST00000548880.2:n.1432T>C
ENST00000548931.6:c.502T>C	ENSP00000457518.1:p.Ser168Pro
ENST00000549450.6:n.916T>C
ENST00000552161.6:n.1938T>C
ENST00000672797.1:n.1435T>C
ENST00000672900.1:n.1780T>C
ENST00000209873.8:c.982T>C	ENSP00000209873.4:p.Ser328Pro
ENST00000394384.7:c.883T>C	ENSP00000377908.3:p.Ser295Pro
ENST00000546572.1:n.570T>C
ENST00000547520.5:n.686T>C
ENST00000548931.5:c.502T>C	ENSP00000457518.1:p.Ser168Pro
ENST00000550033.5:n.237T>C
ENST00000550286.5:c.610T>C	ENSP00000446885.1:p.Ser204Pro
ENST00000552876.5:n.1325T>C
NM_001173466.1:c.883T>C	NP_001166937.1:p.Ser295Pro
NM_015665.5:c.982T>C	NP_056480.1:p.Ser328Pro
XM_006719617.2:c.997T>C	XP_006719680.1:p.Ser333Pro
XM_006719619.2:c.997T>C	XP_006719682.1:p.Ser333Pro
XM_011538777.1:c.997T>C	XP_011537079.1:p.Ser333Pro
XM_011538778.1:c.982T>C	XP_011537080.1:p.Ser328Pro
XM_011538779.1:c.898T>C	XP_011537081.1:p.Ser300Pro
XM_011538780.1:c.883T>C	XP_011537082.1:p.Ser295Pro
XM_011538781.1:c.331T>C	XP_011537083.1:p.Ser111Pro
XM_011538778.2:c.982T>C	XP_011537080.1:p.Ser328Pro
XM_011538780.2:c.883T>C	XP_011537082.1:p.Ser295Pro
XR_001748875.2:n.1003T>C
NM_015665.6:c.982T>C MANE Select	NP_056480.1:p.Ser328Pro
NM_001173466.2:c.883T>C	NP_001166937.1:p.Ser295Pro