Canonical Allele Identifier: CA165949865

Gene: AASS

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.122078919G>A , CM000669.2:g.122078919G>A	GRCh38
NC_000007.13:g.121718973G>A , CM000669.1:g.121718973G>A	GRCh37
NC_000007.12:g.121506209G>A	NCBI36
NG_008140.2:g.70372C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417368.7:c.2428C>T MANE Select	ENSP00000403768.2:p.Gln810Ter
ENST00000679419.1:c.892C>T	ENSP00000505825.1:p.Gln298Ter
ENST00000679511.1:c.2428C>T	ENSP00000505381.1:p.Gln810Ter
ENST00000679579.1:c.*950C>T	ENSP00000505506.1:n.*950C>T
ENST00000679659.1:c.913C>T	ENSP00000506341.1:n.913C>T
ENST00000679721.1:c.902+678C>T
ENST00000679764.1:c.*342C>T	ENSP00000505102.1:n.*342C>T
ENST00000679818.1:n.1563C>T
ENST00000679847.1:c.*950C>T	ENSP00000505881.1:n.*950C>T
ENST00000679864.1:c.2428C>T	ENSP00000505958.1:p.Gln810Ter
ENST00000680080.1:c.*512C>T	ENSP00000506554.1:n.*512C>T
ENST00000681213.1:c.892C>T	ENSP00000505849.1:p.Gln298Ter
ENST00000681314.1:c.1831+678C>T
ENST00000681318.1:c.*301C>T	ENSP00000505352.1:n.*301C>T
ENST00000681387.1:c.*333C>T	ENSP00000506684.1:n.*333C>T
ENST00000681434.1:c.*1054C>T	ENSP00000505671.1:n.*1054C>T
ENST00000681511.1:c.*333C>T	ENSP00000505945.1:n.*333C>T
ENST00000681626.1:c.*132C>T	ENSP00000505942.1:n.*132C>T
ENST00000681708.1:n.5277C>T
ENST00000681907.1:c.1135C>T	ENSP00000506437.1:n.1135C>T
ENST00000358954.6:c.*333C>T	ENSP00000351834.2:n.*333C>T
ENST00000393376.5:c.2428C>T	ENSP00000377040.1:p.Gln810Ter
ENST00000417368.6:c.2428C>T	ENSP00000403768.2:p.Gln810Ter
ENST00000426162.1:c.486C>T	ENSP00000394180.1:n.486C>T
ENST00000431170.5:c.*792C>T	ENSP00000414001.1:n.*792C>T
ENST00000460376.5:n.1136C>T
ENST00000473553.5:n.1123C>T
NM_005763.3:c.2428C>T	NP_005754.2:p.Gln810Ter
XM_011515725.1:c.2332C>T	XP_011514027.1:p.Gln778Ter
XR_242220.2:n.2656C>T
XM_011515725.2:c.2332C>T	XP_011514027.1:p.Gln778Ter
XR_001744514.1:n.2520+678C>T
XR_001744515.1:n.2624+678C>T
XR_001744516.1:n.2583C>T
XR_001744517.1:n.2687C>T
XR_001744519.1:n.2484C>T
XR_001744520.1:n.2588C>T
XR_001744521.1:n.2515C>T
XR_001744522.1:n.2619C>T
XR_001744523.1:n.2452+678C>T
XR_001744524.1:n.2556+678C>T
XR_242220.3:n.2656C>T
XR_927326.2:n.2551+678C>T
NM_005763.4:c.2428C>T MANE Select	NP_005754.2:p.Gln810Ter