Canonical Allele Identifier: CA375229529

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480441A>G , CM000671.2:g.130480441A>G	GRCh38
NC_000009.11:g.133355828A>G , CM000671.1:g.133355828A>G	GRCh37
NC_000009.10:g.132345649A>G	NCBI36
NG_011542.1:g.40735A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_054012.4:c.830A>G MANE Select	NP_446464.1:p.Lys277Arg
ENST00000352480.10:c.830A>G MANE Select	ENSP00000253004.6:p.Lys277Arg
NM_000050.4:c.830A>G	NP_000041.2:p.Lys277Arg
NM_054012.3:c.830A>G	NP_446464.1:p.Lys277Arg
ENST00000352480.9:c.830A>G	ENSP00000253004.6:p.Lys277Arg
ENST00000372386.6:n.101A>G
ENST00000372393.7:c.830A>G	ENSP00000361469.2:p.Lys277Arg
ENST00000372394.5:c.830A>G	ENSP00000361471.1:p.Lys277Arg
ENST00000470849.4:n.555A>G
ENST00000492400.5:n.339A>G
ENST00000493984.6:n.607A>G
XM_005272200.2:c.830A>G	XP_005272257.1:p.Lys277Arg
XM_005272200.3:c.830A>G	XP_005272257.1:p.Lys277Arg
XM_011518705.1:c.944A>G	XP_011517007.1:p.Lys315Arg
XM_011518705.2:c.944A>G	XP_011517007.1:p.Lys315Arg
XM_017014729.1:c.926A>G	XP_016870218.1:p.Lys309Arg