Canonical Allele Identifier: CA375225831

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130464148C>A , CM000671.2:g.130464148C>A	GRCh38
NC_000009.11:g.133339535C>A , CM000671.1:g.133339535C>A	GRCh37
NC_000009.10:g.132329356C>A	NCBI36
NG_011542.1:g.24442C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_054012.4:c.401C>A MANE Select	NP_446464.1:p.Ser134Ter
ENST00000352480.10:c.401C>A MANE Select	ENSP00000253004.6:p.Ser134Ter
NM_000050.4:c.401C>A	NP_000041.2:p.Ser134Ter
NM_054012.3:c.401C>A	NP_446464.1:p.Ser134Ter
ENST00000352480.9:c.401C>A	ENSP00000253004.6:p.Ser134Ter
ENST00000372393.7:c.401C>A	ENSP00000361469.2:p.Ser134Ter
ENST00000372394.5:c.401C>A	ENSP00000361471.1:p.Ser134Ter
ENST00000422569.5:c.401C>A	ENSP00000394212.1:p.Ser134Ter
ENST00000443588.1:c.364-2577C>A	ENSP00000397785.1:n.364-2577C>A
ENST00000467695.5:n.110C>A
XM_005272200.2:c.401C>A	XP_005272257.1:p.Ser134Ter
XM_005272200.3:c.401C>A	XP_005272257.1:p.Ser134Ter
XM_011518705.1:c.515C>A	XP_011517007.1:p.Ser172Ter
XM_011518705.2:c.515C>A	XP_011517007.1:p.Ser172Ter
XM_017014729.1:c.497C>A	XP_016870218.1:p.Ser166Ter