Canonical Allele Identifier: CA5283097

Gene: ASS1

Linked Data

• dbSNP Id: rs532387107
• ExAC: 9:133327427 C / T
• gnomAD v2: 9-133327427-C-T
• gnomAD v3: 9-130452040-C-T
• gnomAD v4: 9-130452040-C-T
• MyVariant Identifiers: chr9:g.133327427C>T (hg19) ; chr9:g.130452040C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130452040C>T , CM000671.2:g.130452040C>T	GRCh38
NC_000009.11:g.133327427C>T , CM000671.1:g.133327427C>T	GRCh37
NC_000009.10:g.132317248C>T	NCBI36
NG_011542.1:g.12334C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.-5-184C>T MANE Select	ENSP00000253004.6:n.-5-184C>T
ENST00000352480.9:c.-5-184C>T	ENSP00000253004.6:n.-5-184C>T
ENST00000372393.7:c.-5-184C>T	ENSP00000361469.2:n.-5-184C>T
ENST00000372394.5:c.-9C>T	ENSP00000361471.1:n.-9C>T
ENST00000422569.5:c.-5-184C>T	ENSP00000394212.1:n.-5-184C>T
NM_000050.4:c.-5-184C>T	NP_000041.2:n.-5-184C>T
NM_054012.3:c.-5-184C>T	NP_446464.1:n.-5-184C>T
XM_005272200.2:c.-5-184C>T	XP_005272257.1:n.-5-184C>T
XM_011518705.1:c.110-184C>T	XP_011517007.1:n.110-184C>T
XM_005272200.3:c.-5-184C>T	XP_005272257.1:n.-5-184C>T
XM_011518705.2:c.110-184C>T	XP_011517007.1:n.110-184C>T
XM_017014729.1:c.92-184C>T	XP_016870218.1:n.92-184C>T
NM_054012.4:c.-5-184C>T MANE Select	NP_446464.1:n.-5-184C>T