Canonical Allele Identifier: CA375230556

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489386G>A , CM000671.2:g.130489386G>A	GRCh38
NC_000009.11:g.133364773G>A , CM000671.1:g.133364773G>A	GRCh37
NC_000009.10:g.132354594G>A	NCBI36
NG_011542.1:g.49680G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_054012.4:c.892G>A MANE Select	NP_446464.1:p.Glu298Lys
ENST00000352480.10:c.892G>A MANE Select	ENSP00000253004.6:p.Glu298Lys
NM_000050.4:c.892G>A	NP_000041.2:p.Glu298Lys
NM_054012.3:c.892G>A	NP_446464.1:p.Glu298Lys
ENST00000352480.9:c.892G>A	ENSP00000253004.6:p.Glu298Lys
ENST00000372386.6:n.163G>A
ENST00000372393.7:c.892G>A	ENSP00000361469.2:p.Glu298Lys
ENST00000372394.5:c.892G>A	ENSP00000361471.1:p.Glu298Lys
ENST00000470849.4:n.617G>A
ENST00000492400.5:n.401G>A
ENST00000493984.6:n.669G>A
XM_005272200.2:c.892G>A	XP_005272257.1:p.Glu298Lys
XM_005272200.3:c.892G>A	XP_005272257.1:p.Glu298Lys
XM_011518705.1:c.1006G>A	XP_011517007.1:p.Glu336Lys
XM_011518705.2:c.1006G>A	XP_011517007.1:p.Glu336Lys
XM_017014729.1:c.988G>A	XP_016870218.1:p.Glu330Lys