Canonical Allele Identifier: CA467385646

Gene: ASS1

Linked Data

• ClinVar Variation Id: 2016694
• ClinVar RCV Id: RCV002844025
• dbSNP Id: rs1256581378
• gnomAD v3: 9-130489391-C-T
• gnomAD v4: 9-130489391-C-T
• MyVariant Identifiers: chr9:g.133364778C>T (hg19) ; chr9:g.130489391C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489391C>T , CM000671.2:g.130489391C>T	GRCh38
NC_000009.11:g.133364778C>T , CM000671.1:g.133364778C>T	GRCh37
NC_000009.10:g.132354599C>T	NCBI36
NG_011542.1:g.49685C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.897C>T MANE Select	ENSP00000253004.6:p.Ala299=
ENST00000352480.9:c.897C>T	ENSP00000253004.6:p.Ala299=
ENST00000372386.6:n.168C>T
ENST00000372393.7:c.897C>T	ENSP00000361469.2:p.Ala299=
ENST00000372394.5:c.897C>T	ENSP00000361471.1:p.Ala299=
ENST00000470849.4:n.622C>T
ENST00000492400.5:n.406C>T
ENST00000493984.6:n.674C>T
NM_000050.4:c.897C>T	NP_000041.2:p.Ala299=
NM_054012.3:c.897C>T	NP_446464.1:p.Ala299=
XM_005272200.2:c.897C>T	XP_005272257.1:p.Ala299=
XM_011518705.1:c.1011C>T	XP_011517007.1:p.Ala337=
XM_005272200.3:c.897C>T	XP_005272257.1:p.Ala299=
XM_011518705.2:c.1011C>T	XP_011517007.1:p.Ala337=
XM_017014729.1:c.993C>T	XP_016870218.1:p.Ala331=
NM_054012.4:c.897C>T MANE Select	NP_446464.1:p.Ala299=