Canonical Allele Identifier: CA200576291

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130476920C>A , CM000671.2:g.130476920C>A	GRCh38
NC_000009.11:g.133352307C>A , CM000671.1:g.133352307C>A	GRCh37
NC_000009.10:g.132342128C>A	NCBI36
NG_011542.1:g.37214C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_054012.4:c.647C>A MANE Select	NP_446464.1:p.Ala216Asp
ENST00000352480.10:c.647C>A MANE Select	ENSP00000253004.6:p.Ala216Asp
NM_000050.4:c.647C>A	NP_000041.2:p.Ala216Asp
NM_054012.3:c.647C>A	NP_446464.1:p.Ala216Asp
ENST00000352480.9:c.647C>A	ENSP00000253004.6:p.Ala216Asp
ENST00000372393.7:c.647C>A	ENSP00000361469.2:p.Ala216Asp
ENST00000372394.5:c.647C>A	ENSP00000361471.1:p.Ala216Asp
ENST00000467695.5:n.356C>A
ENST00000470849.4:n.372C>A
ENST00000492400.5:n.156C>A
ENST00000493984.6:n.478C>A
XM_005272200.2:c.647C>A	XP_005272257.1:p.Ala216Asp
XM_005272200.3:c.647C>A	XP_005272257.1:p.Ala216Asp
XM_011518705.1:c.761C>A	XP_011517007.1:p.Ala254Asp
XM_011518705.2:c.761C>A	XP_011517007.1:p.Ala254Asp
XM_017014729.1:c.743C>A	XP_016870218.1:p.Ala248Asp