Canonical Allele Identifier: CA860479371

Gene: ASS1

Linked Data

• dbSNP Id: rs1291466648
• gnomAD v3: 9-130471427-G-T
• gnomAD v4: 9-130471427-G-T
• MyVariant Identifiers: chr9:g.133346814G>T (hg19) ; chr9:g.130471427G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130471427G>T , CM000671.2:g.130471427G>T	GRCh38
NC_000009.11:g.133346814G>T , CM000671.1:g.133346814G>T	GRCh37
NC_000009.10:g.132336635G>T	NCBI36
NG_011542.1:g.31721G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.567-58G>T MANE Select	ENSP00000253004.6:n.567-58G>T
ENST00000352480.9:c.567-58G>T	ENSP00000253004.6:n.567-58G>T
ENST00000372393.7:c.567-58G>T	ENSP00000361469.2:n.567-58G>T
ENST00000372394.5:c.567-58G>T	ENSP00000361471.1:n.567-58G>T
ENST00000422569.5:c.567-58G>T	ENSP00000394212.1:n.567-58G>T
ENST00000443588.1:c.510-58G>T	ENSP00000397785.1:n.510-58G>T
ENST00000467695.5:n.276-58G>T
ENST00000493984.6:n.398-58G>T
NM_000050.4:c.567-58G>T	NP_000041.2:n.567-58G>T
NM_054012.3:c.567-58G>T	NP_446464.1:n.567-58G>T
XM_005272200.2:c.567-58G>T	XP_005272257.1:n.567-58G>T
XM_011518705.1:c.681-58G>T	XP_011517007.1:n.681-58G>T
XM_005272200.3:c.567-58G>T	XP_005272257.1:n.567-58G>T
XM_011518705.2:c.681-58G>T	XP_011517007.1:n.681-58G>T
XM_017014729.1:c.663-58G>T	XP_016870218.1:n.663-58G>T
NM_054012.4:c.567-58G>T MANE Select	NP_446464.1:n.567-58G>T