Canonical Allele Identifier: CA375224969

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130458442C>A , CM000671.2:g.130458442C>A	GRCh38
NC_000009.11:g.133333829C>A , CM000671.1:g.133333829C>A	GRCh37
NC_000009.10:g.132323650C>A	NCBI36
NG_011542.1:g.18736C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_054012.4:c.216C>A MANE Select	NP_446464.1:p.Phe72Leu
ENST00000352480.10:c.216C>A MANE Select	ENSP00000253004.6:p.Phe72Leu
NM_000050.4:c.216C>A	NP_000041.2:p.Phe72Leu
NM_054012.3:c.216C>A	NP_446464.1:p.Phe72Leu
ENST00000352480.9:c.216C>A	ENSP00000253004.6:p.Phe72Leu
ENST00000372393.7:c.216C>A	ENSP00000361469.2:p.Phe72Leu
ENST00000372394.5:c.216C>A	ENSP00000361471.1:p.Phe72Leu
ENST00000422569.5:c.216C>A	ENSP00000394212.1:p.Phe72Leu
ENST00000443588.1:c.216C>A	ENSP00000397785.1:p.Phe72Leu
XM_005272200.2:c.216C>A	XP_005272257.1:p.Phe72Leu
XM_005272200.3:c.216C>A	XP_005272257.1:p.Phe72Leu
XM_011518705.1:c.330C>A	XP_011517007.1:p.Phe110Leu
XM_011518705.2:c.330C>A	XP_011517007.1:p.Phe110Leu
XM_017014729.1:c.312C>A	XP_016870218.1:p.Phe104Leu