Canonical Allele Identifier: CA200603353

Gene: ASS1

Linked Data

• dbSNP Id: rs1036535237
• gnomAD v4: 9-130452153-C-A
• MyVariant Identifiers: chr9:g.133327540C>A (hg19) ; chr9:g.130452153C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130452153C>A , CM000671.2:g.130452153C>A	GRCh38
NC_000009.11:g.133327540C>A , CM000671.1:g.133327540C>A	GRCh37
NC_000009.10:g.132317361C>A	NCBI36
NG_011542.1:g.12447C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.-5-71C>A MANE Select	ENSP00000253004.6:n.-5-71C>A
ENST00000352480.9:c.-5-71C>A	ENSP00000253004.6:n.-5-71C>A
ENST00000372393.7:c.-5-71C>A	ENSP00000361469.2:n.-5-71C>A
ENST00000372394.5:c.-5-71C>A	ENSP00000361471.1:n.-5-71C>A
ENST00000422569.5:c.-5-71C>A	ENSP00000394212.1:n.-5-71C>A
NM_000050.4:c.-5-71C>A	NP_000041.2:n.-5-71C>A
NM_054012.3:c.-5-71C>A	NP_446464.1:n.-5-71C>A
XM_005272200.2:c.-5-71C>A	XP_005272257.1:n.-5-71C>A
XM_011518705.1:c.110-71C>A	XP_011517007.1:n.110-71C>A
XM_005272200.3:c.-5-71C>A	XP_005272257.1:n.-5-71C>A
XM_011518705.2:c.110-71C>A	XP_011517007.1:n.110-71C>A
XM_017014729.1:c.92-71C>A	XP_016870218.1:n.92-71C>A
NM_054012.4:c.-5-71C>A MANE Select	NP_446464.1:n.-5-71C>A