Canonical Allele Identifier: CA2692135176

Gene: ASS1

Linked Data

• gnomAD v4: 9-130489512-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489512C>G , CM000671.2:g.130489512C>G	GRCh38
NC_000009.11:g.133364899C>G , CM000671.1:g.133364899C>G	GRCh37
NC_000009.10:g.132354720C>G	NCBI36
NG_011542.1:g.49806C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.970+48C>G MANE Select	ENSP00000253004.6:n.970+48C>G
ENST00000352480.9:c.970+48C>G	ENSP00000253004.6:n.970+48C>G
ENST00000372386.6:n.241+48C>G
ENST00000372393.7:c.970+48C>G	ENSP00000361469.2:n.970+48C>G
ENST00000372394.5:c.970+48C>G	ENSP00000361471.1:n.970+48C>G
NM_000050.4:c.970+48C>G	NP_000041.2:n.970+48C>G
NM_054012.3:c.970+48C>G	NP_446464.1:n.970+48C>G
XM_005272200.2:c.970+48C>G	XP_005272257.1:n.970+48C>G
XM_011518705.1:c.1084+48C>G	XP_011517007.1:n.1084+48C>G
XM_005272200.3:c.970+48C>G	XP_005272257.1:n.970+48C>G
XM_011518705.2:c.1084+48C>G	XP_011517007.1:n.1084+48C>G
XM_017014729.1:c.1066+48C>G	XP_016870218.1:n.1066+48C>G
NM_054012.4:c.970+48C>G MANE Select	NP_446464.1:n.970+48C>G