Canonical Allele Identifier: CA5283377

Gene: ASS1

Linked Data

• dbSNP Id: rs551393780
• ExAC: 9:133346919 C / T
• gnomAD v2: 9-133346919-C-T
• gnomAD v3: 9-130471532-C-T
• gnomAD v4: 9-130471532-C-T
• MyVariant Identifiers: chr9:g.133346919C>T (hg19) ; chr9:g.130471532C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130471532C>T , CM000671.2:g.130471532C>T	GRCh38
NC_000009.11:g.133346919C>T , CM000671.1:g.133346919C>T	GRCh37
NC_000009.10:g.132336740C>T	NCBI36
NG_011542.1:g.31826C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.597+17C>T MANE Select	ENSP00000253004.6:n.597+17C>T
ENST00000352480.9:c.597+17C>T	ENSP00000253004.6:n.597+17C>T
ENST00000372393.7:c.597+17C>T	ENSP00000361469.2:n.597+17C>T
ENST00000372394.5:c.597+17C>T	ENSP00000361471.1:n.597+17C>T
ENST00000467695.5:n.306+17C>T
ENST00000493984.6:n.428+17C>T
NM_000050.4:c.597+17C>T	NP_000041.2:n.597+17C>T
NM_054012.3:c.597+17C>T	NP_446464.1:n.597+17C>T
XM_005272200.2:c.597+17C>T	XP_005272257.1:n.597+17C>T
XM_011518705.1:c.711+17C>T	XP_011517007.1:n.711+17C>T
XM_005272200.3:c.597+17C>T	XP_005272257.1:n.597+17C>T
XM_011518705.2:c.711+17C>T	XP_011517007.1:n.711+17C>T
XM_017014729.1:c.693+17C>T	XP_016870218.1:n.693+17C>T
NM_054012.4:c.597+17C>T MANE Select	NP_446464.1:n.597+17C>T