Canonical Allele Identifier: CA375229445

Gene: ASS1

Linked Data

• ClinVar Variation Id: 1007324
• ClinVar RCV Id: RCV001304483
• dbSNP Id: rs1846139972
• MyVariant Identifiers: chr9:g.133355789G>T (hg19) ; chr9:g.130480402G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480402G>T , CM000671.2:g.130480402G>T	GRCh38
NC_000009.11:g.133355789G>T , CM000671.1:g.133355789G>T	GRCh37
NC_000009.10:g.132345610G>T	NCBI36
NG_011542.1:g.40696G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.791G>T MANE Select	ENSP00000253004.6:p.Gly264Val
ENST00000352480.9:c.791G>T	ENSP00000253004.6:p.Gly264Val
ENST00000372386.6:n.62G>T
ENST00000372393.7:c.791G>T	ENSP00000361469.2:p.Gly264Val
ENST00000372394.5:c.791G>T	ENSP00000361471.1:p.Gly264Val
ENST00000470849.4:n.516G>T
ENST00000492400.5:n.300G>T
ENST00000493984.6:n.568G>T
NM_000050.4:c.791G>T	NP_000041.2:p.Gly264Val
NM_054012.3:c.791G>T	NP_446464.1:p.Gly264Val
XM_005272200.2:c.791G>T	XP_005272257.1:p.Gly264Val
XM_011518705.1:c.905G>T	XP_011517007.1:p.Gly302Val
XM_005272200.3:c.791G>T	XP_005272257.1:p.Gly264Val
XM_011518705.2:c.905G>T	XP_011517007.1:p.Gly302Val
XM_017014729.1:c.887G>T	XP_016870218.1:p.Gly296Val
NM_054012.4:c.791G>T MANE Select	NP_446464.1:p.Gly264Val