Canonical Allele Identifier: CA375224765

Gene: ASS1

Linked Data

• ClinVar Variation Id: 1697291
• ClinVar RCV Id: RCV002267673
• dbSNP Id: rs1554982809
• MyVariant Identifiers: chr9:g.133333787G>T (hg19) ; chr9:g.130458400G>T (hg38)
• MutSpliceDB: CA375224765

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130458400G>T , CM000671.2:g.130458400G>T	GRCh38
NC_000009.11:g.133333787G>T , CM000671.1:g.133333787G>T	GRCh37
NC_000009.10:g.132323608G>T	NCBI36
NG_011542.1:g.18694G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.175-1G>T MANE Select	ENSP00000253004.6:n.175-1G>T
ENST00000352480.9:c.175-1G>T	ENSP00000253004.6:n.175-1G>T
ENST00000372393.7:c.175-1G>T	ENSP00000361469.2:n.175-1G>T
ENST00000372394.5:c.175-1G>T	ENSP00000361471.1:n.175-1G>T
ENST00000422569.5:c.175-1G>T	ENSP00000394212.1:n.175-1G>T
ENST00000443588.1:c.175-1G>T	ENSP00000397785.1:n.175-1G>T
NM_000050.4:c.175-1G>T	NP_000041.2:n.175-1G>T
NM_054012.3:c.175-1G>T	NP_446464.1:n.175-1G>T
XM_005272200.2:c.175-1G>T	XP_005272257.1:n.175-1G>T
XM_011518705.1:c.289-1G>T	XP_011517007.1:n.289-1G>T
XM_005272200.3:c.175-1G>T	XP_005272257.1:n.175-1G>T
XM_011518705.2:c.289-1G>T	XP_011517007.1:n.289-1G>T
XM_017014729.1:c.271-1G>T	XP_016870218.1:n.271-1G>T
NM_054012.4:c.175-1G>T MANE Select	NP_446464.1:n.175-1G>T