Canonical Allele Identifier: CA5283611

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130494900G>A , CM000671.2:g.130494900G>A	GRCh38
NC_000009.11:g.133370287G>A , CM000671.1:g.133370287G>A	GRCh37
NC_000009.10:g.132360108G>A	NCBI36
NG_011542.1:g.55194G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_054012.4:c.1004G>A MANE Select	NP_446464.1:p.Arg335His
ENST00000352480.10:c.1004G>A MANE Select	ENSP00000253004.6:p.Arg335His
NM_000050.4:c.1004G>A	NP_000041.2:p.Arg335His
NM_054012.3:c.1004G>A	NP_446464.1:p.Arg335His
ENST00000352480.9:c.1004G>A	ENSP00000253004.6:p.Arg335His
ENST00000372386.6:n.275G>A
ENST00000372393.7:c.1004G>A	ENSP00000361469.2:p.Arg335His
ENST00000372394.5:c.1004G>A	ENSP00000361471.1:p.Arg335His
XM_005272200.2:c.1004G>A	XP_005272257.1:p.Arg335His
XM_005272200.3:c.1004G>A	XP_005272257.1:p.Arg335His
XM_011518705.1:c.1118G>A	XP_011517007.1:p.Arg373His
XM_011518705.2:c.1118G>A	XP_011517007.1:p.Arg373His
XM_017014729.1:c.1100G>A	XP_016870218.1:p.Arg367His
XR_930393.1:n.1060-2643C>T
XR_930393.2:n.1102-2643C>T