Canonical Allele Identifier: CA369017456

Gene: AASS

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.122116653T>G , CM000669.2:g.122116653T>G	GRCh38
NC_000007.13:g.121756707T>G , CM000669.1:g.121756707T>G	GRCh37
NC_000007.12:g.121543943T>G	NCBI36
NG_008140.2:g.32638A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005763.4:c.874A>C MANE Select	NP_005754.2:p.Ile292Leu
ENST00000417368.7:c.874A>C MANE Select	ENSP00000403768.2:p.Ile292Leu
NM_005763.3:c.874A>C	NP_005754.2:p.Ile292Leu
ENST00000358954.6:c.874A>C	ENSP00000351834.2:p.Ile292Leu
ENST00000393376.5:c.874A>C	ENSP00000377040.1:p.Ile292Leu
ENST00000417368.6:c.874A>C	ENSP00000403768.2:p.Ile292Leu
ENST00000431170.5:c.874A>C	ENSP00000414001.1:p.Ile292Leu
ENST00000473553.5:n.96-14973A>C
ENST00000679402.1:n.95-14973A>C
ENST00000679511.1:c.874A>C	ENSP00000505381.1:p.Ile292Leu
ENST00000679579.1:c.874A>C	ENSP00000505506.1:p.Ile292Leu
ENST00000679847.1:c.874A>C	ENSP00000505881.1:p.Ile292Leu
ENST00000679864.1:c.874A>C	ENSP00000505958.1:p.Ile292Leu
ENST00000681314.1:c.273A>C
ENST00000681434.1:c.874A>C	ENSP00000505671.1:p.Ile292Leu
ENST00000681708.1:n.1037A>C
XM_011515725.1:c.874A>C	XP_011514027.1:p.Ile292Leu
XM_011515725.2:c.874A>C	XP_011514027.1:p.Ile292Leu
XM_011515726.1:c.874A>C	XP_011514028.1:p.Ile292Leu
XR_001744514.1:n.998A>C
XR_001744515.1:n.998A>C
XR_001744516.1:n.998A>C
XR_001744517.1:n.998A>C
XR_001744519.1:n.998A>C
XR_001744520.1:n.998A>C
XR_001744521.1:n.998A>C
XR_001744522.1:n.998A>C
XR_001744523.1:n.998A>C
XR_001744524.1:n.998A>C
XR_242220.2:n.998A>C
XR_242220.3:n.998A>C
XR_242221.1:n.998A>C
XR_927326.1:n.998A>C
XR_927326.2:n.998A>C