Canonical Allele Identifier: CA165925623

Gene: AASS

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.122101384G>C , CM000669.2:g.122101384G>C	GRCh38
NC_000007.13:g.121741438G>C , CM000669.1:g.121741438G>C	GRCh37
NC_000007.12:g.121528674G>C	NCBI36
NG_008140.2:g.47907C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417368.7:c.1393C>G MANE Select	ENSP00000403768.2:p.Leu465Val
ENST00000679402.1:n.391C>G
ENST00000679511.1:c.1393C>G	ENSP00000505381.1:p.Leu465Val
ENST00000679579.1:c.1338+237C>G	ENSP00000505506.1:n.1338+237C>G
ENST00000679847.1:c.1338+237C>G	ENSP00000505881.1:n.1338+237C>G
ENST00000679864.1:c.1393C>G	ENSP00000505958.1:p.Leu465Val
ENST00000681314.1:c.737+237C>G
ENST00000681434.1:c.1338+237C>G	ENSP00000505671.1:n.1338+237C>G
ENST00000681708.1:n.1738C>G
ENST00000358954.6:c.1393C>G	ENSP00000351834.2:p.Leu465Val
ENST00000393376.5:c.1393C>G	ENSP00000377040.1:p.Leu465Val
ENST00000417368.6:c.1393C>G	ENSP00000403768.2:p.Leu465Val
ENST00000431170.5:c.1393C>G	ENSP00000414001.1:p.Leu465Val
ENST00000473553.5:n.210C>G
NM_005763.3:c.1393C>G	NP_005754.2:p.Leu465Val
XM_011515725.1:c.1393C>G	XP_011514027.1:p.Leu465Val
XM_011515726.1:c.1393C>G	XP_011514028.1:p.Leu465Val
XR_242220.2:n.1517C>G
XR_242221.1:n.1462+237C>G
XR_927326.1:n.1517C>G
XM_011515725.2:c.1393C>G	XP_011514027.1:p.Leu465Val
XR_001744514.1:n.1517C>G
XR_001744515.1:n.1517C>G
XR_001744516.1:n.1517C>G
XR_001744517.1:n.1517C>G
XR_001744519.1:n.1462+237C>G
XR_001744520.1:n.1462+237C>G
XR_001744521.1:n.1462+237C>G
XR_001744522.1:n.1462+237C>G
XR_001744523.1:n.1462+237C>G
XR_001744524.1:n.1462+237C>G
XR_242220.3:n.1517C>G
XR_927326.2:n.1517C>G
NM_005763.4:c.1393C>G MANE Select	NP_005754.2:p.Leu465Val