Canonical Allele Identifier: CA375229354

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130479786C>A , CM000671.2:g.130479786C>A	GRCh38
NC_000009.11:g.133355173C>A , CM000671.1:g.133355173C>A	GRCh37
NC_000009.10:g.132344994C>A	NCBI36
NG_011542.1:g.40080C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_054012.4:c.759C>A MANE Select	NP_446464.1:p.Tyr253Ter
ENST00000352480.10:c.759C>A MANE Select	ENSP00000253004.6:p.Tyr253Ter
NM_000050.4:c.759C>A	NP_000041.2:p.Tyr253Ter
NM_054012.3:c.759C>A	NP_446464.1:p.Tyr253Ter
ENST00000352480.9:c.759C>A	ENSP00000253004.6:p.Tyr253Ter
ENST00000372393.7:c.759C>A	ENSP00000361469.2:p.Tyr253Ter
ENST00000372394.5:c.759C>A	ENSP00000361471.1:p.Tyr253Ter
ENST00000467695.5:n.468C>A
ENST00000470849.4:n.484C>A
ENST00000492400.5:n.268C>A
ENST00000493984.6:n.536C>A
XM_005272200.2:c.759C>A	XP_005272257.1:p.Tyr253Ter
XM_005272200.3:c.759C>A	XP_005272257.1:p.Tyr253Ter
XM_011518705.1:c.873C>A	XP_011517007.1:p.Tyr291Ter
XM_011518705.2:c.873C>A	XP_011517007.1:p.Tyr291Ter
XM_017014729.1:c.855C>A	XP_016870218.1:p.Tyr285Ter