Canonical Allele Identifier: CA5283529

Gene: ASS1

Linked Data

• dbSNP Id: rs567807132
• ExAC: 9:133355774 G / T
• gnomAD v2: 9-133355774-G-T
• gnomAD v3: 9-130480387-G-T
• gnomAD v4: 9-130480387-G-T
• MyVariant Identifiers: chr9:g.133355774G>T (hg19) ; chr9:g.130480387G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480387G>T , CM000671.2:g.130480387G>T	GRCh38
NC_000009.11:g.133355774G>T , CM000671.1:g.133355774G>T	GRCh37
NC_000009.10:g.132345595G>T	NCBI36
NG_011542.1:g.40681G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.776G>T MANE Select	ENSP00000253004.6:p.Gly259Val
ENST00000352480.9:c.776G>T	ENSP00000253004.6:p.Gly259Val
ENST00000372386.6:n.47G>T
ENST00000372393.7:c.776G>T	ENSP00000361469.2:p.Gly259Val
ENST00000372394.5:c.776G>T	ENSP00000361471.1:p.Gly259Val
ENST00000470849.4:n.501G>T
ENST00000492400.5:n.285G>T
ENST00000493984.6:n.553G>T
NM_000050.4:c.776G>T	NP_000041.2:p.Gly259Val
NM_054012.3:c.776G>T	NP_446464.1:p.Gly259Val
XM_005272200.2:c.776G>T	XP_005272257.1:p.Gly259Val
XM_011518705.1:c.890G>T	XP_011517007.1:p.Gly297Val
XM_005272200.3:c.776G>T	XP_005272257.1:p.Gly259Val
XM_011518705.2:c.890G>T	XP_011517007.1:p.Gly297Val
XM_017014729.1:c.872G>T	XP_016870218.1:p.Gly291Val
NM_054012.4:c.776G>T MANE Select	NP_446464.1:p.Gly259Val