Canonical Allele Identifier: CA200612056

Gene: ASS1

Linked Data

• dbSNP Id: rs981245819
• gnomAD v2: 9-133339327-T-G
• gnomAD v3: 9-130463940-T-G
• gnomAD v4: 9-130463940-T-G
• MyVariant Identifiers: chr9:g.133339327T>G (hg19) ; chr9:g.130463940T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130463940T>G , CM000671.2:g.130463940T>G	GRCh38
NC_000009.11:g.133339327T>G , CM000671.1:g.133339327T>G	GRCh37
NC_000009.10:g.132329148T>G	NCBI36
NG_011542.1:g.24234T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.364-171T>G MANE Select	ENSP00000253004.6:n.364-171T>G
ENST00000352480.9:c.364-171T>G	ENSP00000253004.6:n.364-171T>G
ENST00000372393.7:c.364-171T>G	ENSP00000361469.2:n.364-171T>G
ENST00000372394.5:c.364-171T>G	ENSP00000361471.1:n.364-171T>G
ENST00000422569.5:c.364-171T>G	ENSP00000394212.1:n.364-171T>G
ENST00000443588.1:c.364-2785T>G	ENSP00000397785.1:n.364-2785T>G
ENST00000467695.5:n.73-171T>G
NM_000050.4:c.364-171T>G	NP_000041.2:n.364-171T>G
NM_054012.3:c.364-171T>G	NP_446464.1:n.364-171T>G
XM_005272200.2:c.364-171T>G	XP_005272257.1:n.364-171T>G
XM_011518705.1:c.478-171T>G	XP_011517007.1:n.478-171T>G
XM_005272200.3:c.364-171T>G	XP_005272257.1:n.364-171T>G
XM_011518705.2:c.478-171T>G	XP_011517007.1:n.478-171T>G
XM_017014729.1:c.460-171T>G	XP_016870218.1:n.460-171T>G
NM_054012.4:c.364-171T>G MANE Select	NP_446464.1:n.364-171T>G