Canonical Allele Identifier: CA5283296

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130466773C>T , CM000671.2:g.130466773C>T	GRCh38
NC_000009.11:g.133342160C>T , CM000671.1:g.133342160C>T	GRCh37
NC_000009.10:g.132331981C>T	NCBI36
NG_011542.1:g.27067C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_054012.4:c.469C>T MANE Select	NP_446464.1:p.Arg157Cys
ENST00000352480.10:c.469C>T MANE Select	ENSP00000253004.6:p.Arg157Cys
NM_000050.4:c.469C>T	NP_000041.2:p.Arg157Cys
NM_054012.3:c.469C>T	NP_446464.1:p.Arg157Cys
ENST00000352480.9:c.469C>T	ENSP00000253004.6:p.Arg157Cys
ENST00000372393.7:c.469C>T	ENSP00000361469.2:p.Arg157Cys
ENST00000372394.5:c.469C>T	ENSP00000361471.1:p.Arg157Cys
ENST00000422569.5:c.469C>T	ENSP00000394212.1:p.Arg157Cys
ENST00000443588.1:c.412C>T	ENSP00000397785.1:p.Arg138Cys
ENST00000467695.5:n.178C>T
ENST00000493984.6:n.300C>T
XM_005272200.2:c.469C>T	XP_005272257.1:p.Arg157Cys
XM_005272200.3:c.469C>T	XP_005272257.1:p.Arg157Cys
XM_011518705.1:c.583C>T	XP_011517007.1:p.Arg195Cys
XM_011518705.2:c.583C>T	XP_011517007.1:p.Arg195Cys
XM_017014729.1:c.565C>T	XP_016870218.1:p.Arg189Cys