Canonical Allele Identifier: CA5283636

Gene: ASS1

Linked Data

• dbSNP Id: rs760795909
• ExAC: 9:133370413 A / G
• gnomAD v2: 9-133370413-A-G
• gnomAD v4: 9-130495026-A-G
• MyVariant Identifiers: chr9:g.133370413A>G (hg19) ; chr9:g.130495026A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130495026A>G , CM000671.2:g.130495026A>G	GRCh38
NC_000009.11:g.133370413A>G , CM000671.1:g.133370413A>G	GRCh37
NC_000009.10:g.132360234A>G	NCBI36
NG_011542.1:g.55320A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.1127+3A>G MANE Select	ENSP00000253004.6:n.1127+3A>G
ENST00000352480.9:c.1127+3A>G	ENSP00000253004.6:n.1127+3A>G
ENST00000372386.6:n.398+3A>G
ENST00000372393.7:c.1127+3A>G	ENSP00000361469.2:n.1127+3A>G
ENST00000372394.5:c.1127+3A>G	ENSP00000361471.1:n.1127+3A>G
NM_000050.4:c.1127+3A>G	NP_000041.2:n.1127+3A>G
NM_054012.3:c.1127+3A>G	NP_446464.1:n.1127+3A>G
XM_005272200.2:c.1127+3A>G	XP_005272257.1:n.1127+3A>G
XM_011518705.1:c.1241+3A>G	XP_011517007.1:n.1241+3A>G
XR_930393.1:n.1060-2769T>C
XM_005272200.3:c.1127+3A>G	XP_005272257.1:n.1127+3A>G
XM_011518705.2:c.1241+3A>G	XP_011517007.1:n.1241+3A>G
XM_017014729.1:c.1223+3A>G	XP_016870218.1:n.1223+3A>G
XR_930393.2:n.1102-2769T>C
NM_054012.4:c.1127+3A>G MANE Select	NP_446464.1:n.1127+3A>G