Canonical Allele Identifier: CA375227496

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133346886T>A (hg19) ; chr9:g.130471499T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130471499T>A , CM000671.2:g.130471499T>A	GRCh38
NC_000009.11:g.133346886T>A , CM000671.1:g.133346886T>A	GRCh37
NC_000009.10:g.132336707T>A	NCBI36
NG_011542.1:g.31793T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.581T>A MANE Select	ENSP00000253004.6:p.Ile194Asn
ENST00000352480.9:c.581T>A	ENSP00000253004.6:p.Ile194Asn
ENST00000372393.7:c.581T>A	ENSP00000361469.2:p.Ile194Asn
ENST00000372394.5:c.581T>A	ENSP00000361471.1:p.Ile194Asn
ENST00000422569.5:c.581T>A	ENSP00000394212.1:p.Ile194Asn
ENST00000443588.1:c.524T>A	ENSP00000397785.1:p.Ile175Asn
ENST00000467695.5:n.290T>A
ENST00000493984.6:n.412T>A
NM_000050.4:c.581T>A	NP_000041.2:p.Ile194Asn
NM_054012.3:c.581T>A	NP_446464.1:p.Ile194Asn
XM_005272200.2:c.581T>A	XP_005272257.1:p.Ile194Asn
XM_011518705.1:c.695T>A	XP_011517007.1:p.Ile232Asn
XM_005272200.3:c.581T>A	XP_005272257.1:p.Ile194Asn
XM_011518705.2:c.695T>A	XP_011517007.1:p.Ile232Asn
XM_017014729.1:c.677T>A	XP_016870218.1:p.Ile226Asn
NM_054012.4:c.581T>A MANE Select	NP_446464.1:p.Ile194Asn