Canonical Allele Identifier: CA375230583

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489398A>G , CM000671.2:g.130489398A>G	GRCh38
NC_000009.11:g.133364785A>G , CM000671.1:g.133364785A>G	GRCh37
NC_000009.10:g.132354606A>G	NCBI36
NG_011542.1:g.49692A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_054012.4:c.904A>G MANE Select	NP_446464.1:p.Met302Val
ENST00000352480.10:c.904A>G MANE Select	ENSP00000253004.6:p.Met302Val
NM_000050.4:c.904A>G	NP_000041.2:p.Met302Val
NM_054012.3:c.904A>G	NP_446464.1:p.Met302Val
ENST00000352480.9:c.904A>G	ENSP00000253004.6:p.Met302Val
ENST00000372386.6:n.175A>G
ENST00000372393.7:c.904A>G	ENSP00000361469.2:p.Met302Val
ENST00000372394.5:c.904A>G	ENSP00000361471.1:p.Met302Val
ENST00000470849.4:n.629A>G
ENST00000492400.5:n.413A>G
ENST00000493984.6:n.681A>G
XM_005272200.2:c.904A>G	XP_005272257.1:p.Met302Val
XM_005272200.3:c.904A>G	XP_005272257.1:p.Met302Val
XM_011518705.1:c.1018A>G	XP_011517007.1:p.Met340Val
XM_011518705.2:c.1018A>G	XP_011517007.1:p.Met340Val
XM_017014729.1:c.1000A>G	XP_016870218.1:p.Met334Val