Canonical Allele Identifier: CA860482947

Gene: ASS1

Linked Data

• dbSNP Id: rs1455225643
• gnomAD v3: 9-130480304-C-T
• gnomAD v4: 9-130480304-C-T
• MyVariant Identifiers: chr9:g.133355691C>T (hg19) ; chr9:g.130480304C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480304C>T , CM000671.2:g.130480304C>T	GRCh38
NC_000009.11:g.133355691C>T , CM000671.1:g.133355691C>T	GRCh37
NC_000009.10:g.132345512C>T	NCBI36
NG_011542.1:g.40598C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.774-81C>T MANE Select	ENSP00000253004.6:n.774-81C>T
ENST00000352480.9:c.774-81C>T	ENSP00000253004.6:n.774-81C>T
ENST00000372386.6:n.45-81C>T
ENST00000372393.7:c.774-81C>T	ENSP00000361469.2:n.774-81C>T
ENST00000372394.5:c.774-81C>T	ENSP00000361471.1:n.774-81C>T
ENST00000470849.4:n.499-81C>T
ENST00000492400.5:n.283-81C>T
ENST00000493984.6:n.551-81C>T
NM_000050.4:c.774-81C>T	NP_000041.2:n.774-81C>T
NM_054012.3:c.774-81C>T	NP_446464.1:n.774-81C>T
XM_005272200.2:c.774-81C>T	XP_005272257.1:n.774-81C>T
XM_011518705.1:c.888-81C>T	XP_011517007.1:n.888-81C>T
XM_005272200.3:c.774-81C>T	XP_005272257.1:n.774-81C>T
XM_011518705.2:c.888-81C>T	XP_011517007.1:n.888-81C>T
XM_017014729.1:c.870-81C>T	XP_016870218.1:n.870-81C>T
NM_054012.4:c.774-81C>T MANE Select	NP_446464.1:n.774-81C>T