Canonical Allele Identifier: CA860467202

Gene: ASS1

Linked Data

• dbSNP Id: rs1367966179
• gnomAD v3: 9-130452195-C-T
• gnomAD v4: 9-130452195-C-T
• MyVariant Identifiers: chr9:g.133327582C>T (hg19) ; chr9:g.130452195C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130452195C>T , CM000671.2:g.130452195C>T	GRCh38
NC_000009.11:g.133327582C>T , CM000671.1:g.133327582C>T	GRCh37
NC_000009.10:g.132317403C>T	NCBI36
NG_011542.1:g.12489C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.-5-29C>T MANE Select	ENSP00000253004.6:n.-5-29C>T
ENST00000352480.9:c.-5-29C>T	ENSP00000253004.6:n.-5-29C>T
ENST00000372393.7:c.-5-29C>T	ENSP00000361469.2:n.-5-29C>T
ENST00000372394.5:c.-5-29C>T	ENSP00000361471.1:n.-5-29C>T
ENST00000422569.5:c.-5-29C>T	ENSP00000394212.1:n.-5-29C>T
NM_000050.4:c.-5-29C>T	NP_000041.2:n.-5-29C>T
NM_054012.3:c.-5-29C>T	NP_446464.1:n.-5-29C>T
XM_005272200.2:c.-5-29C>T	XP_005272257.1:n.-5-29C>T
XM_011518705.1:c.110-29C>T	XP_011517007.1:n.110-29C>T
XM_005272200.3:c.-5-29C>T	XP_005272257.1:n.-5-29C>T
XM_011518705.2:c.110-29C>T	XP_011517007.1:n.110-29C>T
XM_017014729.1:c.92-29C>T	XP_016870218.1:n.92-29C>T
NM_054012.4:c.-5-29C>T MANE Select	NP_446464.1:n.-5-29C>T