Canonical Allele Identifier: CA375231932

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130494938A>T , CM000671.2:g.130494938A>T	GRCh38
NC_000009.11:g.133370325A>T , CM000671.1:g.133370325A>T	GRCh37
NC_000009.10:g.132360146A>T	NCBI36
NG_011542.1:g.55232A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_054012.4:c.1042A>T MANE Select	NP_446464.1:p.Lys348Ter
ENST00000352480.10:c.1042A>T MANE Select	ENSP00000253004.6:p.Lys348Ter
NM_000050.4:c.1042A>T	NP_000041.2:p.Lys348Ter
NM_054012.3:c.1042A>T	NP_446464.1:p.Lys348Ter
ENST00000352480.9:c.1042A>T	ENSP00000253004.6:p.Lys348Ter
ENST00000372386.6:n.313A>T
ENST00000372393.7:c.1042A>T	ENSP00000361469.2:p.Lys348Ter
ENST00000372394.5:c.1042A>T	ENSP00000361471.1:p.Lys348Ter
XM_005272200.2:c.1042A>T	XP_005272257.1:p.Lys348Ter
XM_005272200.3:c.1042A>T	XP_005272257.1:p.Lys348Ter
XM_011518705.1:c.1156A>T	XP_011517007.1:p.Lys386Ter
XM_011518705.2:c.1156A>T	XP_011517007.1:p.Lys386Ter
XM_017014729.1:c.1138A>T	XP_016870218.1:p.Lys380Ter
XR_930393.1:n.1060-2681T>A
XR_930393.2:n.1102-2681T>A