Canonical Allele Identifier: CA16605533

Gene: ASS1

Linked Data

• ClinVar Variation Id: 379598
• ClinVar RCV Id: RCV000435951 ; RCV003470378
• dbSNP Id: rs1057520659
• MyVariant Identifiers: chr9:g.133346292G>T (hg19) ; chr9:g.130470905G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130470905G>T , CM000671.2:g.130470905G>T	GRCh38
NC_000009.11:g.133346292G>T , CM000671.1:g.133346292G>T	GRCh37
NC_000009.10:g.132336113G>T	NCBI36
NG_011542.1:g.31199G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.566+1G>T MANE Select	ENSP00000253004.6:n.566+1G>T
ENST00000352480.9:c.566+1G>T	ENSP00000253004.6:n.566+1G>T
ENST00000372393.7:c.566+1G>T	ENSP00000361469.2:n.566+1G>T
ENST00000372394.5:c.566+1G>T	ENSP00000361471.1:n.566+1G>T
ENST00000422569.5:c.566+1G>T	ENSP00000394212.1:n.566+1G>T
ENST00000443588.1:c.509+1G>T	ENSP00000397785.1:n.509+1G>T
ENST00000467695.5:n.275+1G>T
ENST00000493984.6:n.397+1G>T
NM_000050.4:c.566+1G>T	NP_000041.2:n.566+1G>T
NM_054012.3:c.566+1G>T	NP_446464.1:n.566+1G>T
XM_005272200.2:c.566+1G>T	XP_005272257.1:n.566+1G>T
XM_011518705.1:c.680+1G>T	XP_011517007.1:n.680+1G>T
XM_005272200.3:c.566+1G>T	XP_005272257.1:n.566+1G>T
XM_011518705.2:c.680+1G>T	XP_011517007.1:n.680+1G>T
XM_017014729.1:c.662+1G>T	XP_016870218.1:n.662+1G>T
NM_054012.4:c.566+1G>T MANE Select	NP_446464.1:n.566+1G>T