Canonical Allele Identifier: CA5283219

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130458525G>A , CM000671.2:g.130458525G>A	GRCh38
NC_000009.11:g.133333912G>A , CM000671.1:g.133333912G>A	GRCh37
NC_000009.10:g.132323733G>A	NCBI36
NG_011542.1:g.18819G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.299G>A MANE Select	ENSP00000253004.6:p.Arg100His
ENST00000352480.9:c.299G>A	ENSP00000253004.6:p.Arg100His
ENST00000372393.7:c.299G>A	ENSP00000361469.2:p.Arg100His
ENST00000372394.5:c.299G>A	ENSP00000361471.1:p.Arg100His
ENST00000422569.5:c.299G>A	ENSP00000394212.1:p.Arg100His
ENST00000443588.1:c.299G>A	ENSP00000397785.1:p.Arg100His
ENST00000467695.5:n.8G>A
NM_000050.4:c.299G>A	NP_000041.2:p.Arg100His
NM_054012.3:c.299G>A	NP_446464.1:p.Arg100His
XM_005272200.2:c.299G>A	XP_005272257.1:p.Arg100His
XM_011518705.1:c.413G>A	XP_011517007.1:p.Arg138His
XM_005272200.3:c.299G>A	XP_005272257.1:p.Arg100His
XM_011518705.2:c.413G>A	XP_011517007.1:p.Arg138His
XM_017014729.1:c.395G>A	XP_016870218.1:p.Arg132His
NM_054012.4:c.299G>A MANE Select	NP_446464.1:p.Arg100His