Canonical Allele Identifier: CA5283663

Gene: ASS1

Linked Data

• dbSNP Id: rs121908641
• ExAC: 9:133374932 G / T
• gnomAD v2: 9-133374932-G-T
• gnomAD v4: 9-130499545-G-T
• MyVariant Identifiers: chr9:g.133374932G>T (hg19) ; chr9:g.130499545G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130499545G>T , CM000671.2:g.130499545G>T	GRCh38
NC_000009.11:g.133374932G>T , CM000671.1:g.133374932G>T	GRCh37
NC_000009.10:g.132364753G>T	NCBI36
NG_011542.1:g.59839G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.1168G>T MANE Select	ENSP00000253004.6:p.Gly390Trp
ENST00000352480.9:c.1168G>T	ENSP00000253004.6:p.Gly390Trp
ENST00000372386.6:n.439G>T
ENST00000372393.7:c.1168G>T	ENSP00000361469.2:p.Gly390Trp
ENST00000372394.5:c.1168G>T	ENSP00000361471.1:p.Gly390Trp
NM_000050.4:c.1168G>T	NP_000041.2:p.Gly390Trp
NM_054012.3:c.1168G>T	NP_446464.1:p.Gly390Trp
XM_005272200.2:c.1168G>T	XP_005272257.1:p.Gly390Trp
XM_011518705.1:c.1282G>T	XP_011517007.1:p.Gly428Trp
XR_930393.1:n.1059+402C>A
XM_005272200.3:c.1168G>T	XP_005272257.1:p.Gly390Trp
XM_011518705.2:c.1282G>T	XP_011517007.1:p.Gly428Trp
XM_017014729.1:c.1264G>T	XP_016870218.1:p.Gly422Trp
XR_930393.2:n.1101+402C>A
NM_054012.4:c.1168G>T MANE Select	NP_446464.1:p.Gly390Trp