Canonical Allele Identifier: CA2692134135

Gene: ASS1

Linked Data

• gnomAD v4: 9-130480456-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480456C>T , CM000671.2:g.130480456C>T	GRCh38
NC_000009.11:g.133355843C>T , CM000671.1:g.133355843C>T	GRCh37
NC_000009.10:g.132345664C>T	NCBI36
NG_011542.1:g.40750C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.838+7C>T MANE Select	ENSP00000253004.6:n.838+7C>T
ENST00000352480.9:c.838+7C>T	ENSP00000253004.6:n.838+7C>T
ENST00000372386.6:n.109+7C>T
ENST00000372393.7:c.838+7C>T	ENSP00000361469.2:n.838+7C>T
ENST00000372394.5:c.838+7C>T	ENSP00000361471.1:n.838+7C>T
ENST00000470849.4:n.563+7C>T
ENST00000492400.5:n.347+7C>T
ENST00000493984.6:n.615+7C>T
NM_000050.4:c.838+7C>T	NP_000041.2:n.838+7C>T
NM_054012.3:c.838+7C>T	NP_446464.1:n.838+7C>T
XM_005272200.2:c.838+7C>T	XP_005272257.1:n.838+7C>T
XM_011518705.1:c.952+7C>T	XP_011517007.1:n.952+7C>T
XM_005272200.3:c.838+7C>T	XP_005272257.1:n.838+7C>T
XM_011518705.2:c.952+7C>T	XP_011517007.1:n.952+7C>T
XM_017014729.1:c.934+7C>T	XP_016870218.1:n.934+7C>T
NM_054012.4:c.838+7C>T MANE Select	NP_446464.1:n.838+7C>T