Canonical Allele Identifier: CA375230528

Gene: ASS1

Linked Data

• gnomAD v4: 9-130489374-C-A
• MyVariant Identifiers: chr9:g.133364761C>A (hg19) ; chr9:g.130489374C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489374C>A , CM000671.2:g.130489374C>A	GRCh38
NC_000009.11:g.133364761C>A , CM000671.1:g.133364761C>A	GRCh37
NC_000009.10:g.132354582C>A	NCBI36
NG_011542.1:g.49668C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.880C>A MANE Select	ENSP00000253004.6:p.His294Asn
ENST00000352480.9:c.880C>A	ENSP00000253004.6:p.His294Asn
ENST00000372386.6:n.151C>A
ENST00000372393.7:c.880C>A	ENSP00000361469.2:p.His294Asn
ENST00000372394.5:c.880C>A	ENSP00000361471.1:p.His294Asn
ENST00000470849.4:n.605C>A
ENST00000492400.5:n.389C>A
ENST00000493984.6:n.657C>A
NM_000050.4:c.880C>A	NP_000041.2:p.His294Asn
NM_054012.3:c.880C>A	NP_446464.1:p.His294Asn
XM_005272200.2:c.880C>A	XP_005272257.1:p.His294Asn
XM_011518705.1:c.994C>A	XP_011517007.1:p.His332Asn
XM_005272200.3:c.880C>A	XP_005272257.1:p.His294Asn
XM_011518705.2:c.994C>A	XP_011517007.1:p.His332Asn
XM_017014729.1:c.976C>A	XP_016870218.1:p.His326Asn
NM_054012.4:c.880C>A MANE Select	NP_446464.1:p.His294Asn