Canonical Allele Identifier: CA12638134

Gene: AASS

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.122079532C>T , CM000669.2:g.122079532C>T	GRCh38
NC_000007.13:g.121719586C>T , CM000669.1:g.121719586C>T	GRCh37
NC_000007.12:g.121506822C>T	NCBI36
NG_008140.2:g.69759G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005763.4:c.2396+65G>A MANE Select	NP_005754.2:n.2396+65G>A
ENST00000417368.7:c.2396+65G>A MANE Select	ENSP00000403768.2:n.2396+65G>A
NM_005763.3:c.2396+65G>A	NP_005754.2:n.2396+65G>A
ENST00000358954.6:c.*301+65G>A	ENSP00000351834.2:n.*301+65G>A
ENST00000393376.5:c.2396+65G>A	ENSP00000377040.1:n.2396+65G>A
ENST00000417368.6:c.2396+65G>A	ENSP00000403768.2:n.2396+65G>A
ENST00000426162.1:c.275+65G>A	ENSP00000394180.1:n.275+65G>A
ENST00000431170.5:c.*760+65G>A	ENSP00000414001.1:n.*760+65G>A
ENST00000460376.5:n.523G>A
ENST00000473553.5:n.1091+65G>A
ENST00000679419.1:c.860+65G>A	ENSP00000505825.1:n.860+65G>A
ENST00000679511.1:c.2396+65G>A	ENSP00000505381.1:n.2396+65G>A
ENST00000679579.1:c.*918+65G>A	ENSP00000505506.1:n.*918+65G>A
ENST00000679659.1:c.881+65G>A	ENSP00000506341.1:n.881+65G>A
ENST00000679721.1:c.902+65G>A
ENST00000679764.1:c.*310+65G>A	ENSP00000505102.1:n.*310+65G>A
ENST00000679818.1:n.1154+65G>A
ENST00000679847.1:c.*918+65G>A	ENSP00000505881.1:n.*918+65G>A
ENST00000679864.1:c.2396+65G>A	ENSP00000505958.1:n.2396+65G>A
ENST00000680080.1:c.*301+65G>A	ENSP00000506554.1:n.*301+65G>A
ENST00000681213.1:c.860+65G>A	ENSP00000505849.1:n.860+65G>A
ENST00000681314.1:c.1831+65G>A
ENST00000681318.1:c.*269+65G>A	ENSP00000505352.1:n.*269+65G>A
ENST00000681387.1:c.*301+65G>A	ENSP00000506684.1:n.*301+65G>A
ENST00000681434.1:c.*1022+65G>A	ENSP00000505671.1:n.*1022+65G>A
ENST00000681511.1:c.*301+65G>A	ENSP00000505945.1:n.*301+65G>A
ENST00000681626.1:c.968+65G>A	ENSP00000505942.1:n.968+65G>A
ENST00000681708.1:n.5245+65G>A
ENST00000681907.1:c.1103+65G>A	ENSP00000506437.1:n.1103+65G>A
XM_011515725.1:c.2300+65G>A	XP_011514027.1:n.2300+65G>A
XM_011515725.2:c.2300+65G>A	XP_011514027.1:n.2300+65G>A
XM_011515726.1:c.2396+65G>A	XP_011514028.1:n.2396+65G>A
XR_001744514.1:n.2520+65G>A
XR_001744515.1:n.2624+65G>A
XR_001744516.1:n.2551+65G>A
XR_001744517.1:n.2655+65G>A
XR_001744519.1:n.2452+65G>A
XR_001744520.1:n.2556+65G>A
XR_001744521.1:n.2483+65G>A
XR_001744522.1:n.2587+65G>A
XR_001744523.1:n.2452+65G>A
XR_001744524.1:n.2556+65G>A
XR_242220.2:n.2624+65G>A
XR_242220.3:n.2624+65G>A
XR_927326.2:n.2551+65G>A