Canonical Allele Identifier: CA2684672147

Gene: AASS

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.122126320A>T , CM000669.2:g.122126320A>T	GRCh38
NC_000007.13:g.121766374A>T , CM000669.1:g.121766374A>T	GRCh37
NC_000007.12:g.121553610A>T	NCBI36
NG_008140.2:g.22971T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417368.7:c.472+55T>A MANE Select	ENSP00000403768.2:n.472+55T>A
ENST00000679402.1:n.94+17841T>A
ENST00000679511.1:c.472+55T>A	ENSP00000505381.1:n.472+55T>A
ENST00000679579.1:c.472+55T>A	ENSP00000505506.1:n.472+55T>A
ENST00000679847.1:c.472+55T>A	ENSP00000505881.1:n.472+55T>A
ENST00000679864.1:c.472+55T>A	ENSP00000505958.1:n.472+55T>A
ENST00000681434.1:c.472+55T>A	ENSP00000505671.1:n.472+55T>A
ENST00000681708.1:n.635+55T>A
ENST00000358954.6:c.472+55T>A	ENSP00000351834.2:n.472+55T>A
ENST00000393376.5:c.472+55T>A	ENSP00000377040.1:n.472+55T>A
ENST00000417368.6:c.472+55T>A	ENSP00000403768.2:n.472+55T>A
ENST00000431170.5:c.472+55T>A	ENSP00000414001.1:n.472+55T>A
ENST00000473553.5:n.95+17841T>A
NM_005763.3:c.472+55T>A	NP_005754.2:n.472+55T>A
XM_011515725.1:c.472+55T>A	XP_011514027.1:n.472+55T>A
XM_011515726.1:c.472+55T>A	XP_011514028.1:n.472+55T>A
XR_242220.2:n.596+55T>A
XR_242221.1:n.596+55T>A
XR_927326.1:n.596+55T>A
XM_011515725.2:c.472+55T>A	XP_011514027.1:n.472+55T>A
XR_001744514.1:n.596+55T>A
XR_001744515.1:n.596+55T>A
XR_001744516.1:n.596+55T>A
XR_001744517.1:n.596+55T>A
XR_001744519.1:n.596+55T>A
XR_001744520.1:n.596+55T>A
XR_001744521.1:n.596+55T>A
XR_001744522.1:n.596+55T>A
XR_001744523.1:n.596+55T>A
XR_001744524.1:n.596+55T>A
XR_242220.3:n.596+55T>A
XR_927326.2:n.596+55T>A
NM_005763.4:c.472+55T>A MANE Select	NP_005754.2:n.472+55T>A