Canonical Allele Identifier: CA375223497

Gene: ASS1

Linked Data

• dbSNP Id: rs1845344767
• gnomAD v4: 9-130452250-G-T
• MyVariant Identifiers: chr9:g.133327637G>T (hg19) ; chr9:g.130452250G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130452250G>T , CM000671.2:g.130452250G>T	GRCh38
NC_000009.11:g.133327637G>T , CM000671.1:g.133327637G>T	GRCh37
NC_000009.10:g.132317458G>T	NCBI36
NG_011542.1:g.12544G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.22G>T MANE Select	ENSP00000253004.6:p.Val8Phe
ENST00000352480.9:c.22G>T	ENSP00000253004.6:p.Val8Phe
ENST00000372393.7:c.22G>T	ENSP00000361469.2:p.Val8Phe
ENST00000372394.5:c.22G>T	ENSP00000361471.1:p.Val8Phe
ENST00000422569.5:c.22G>T	ENSP00000394212.1:p.Val8Phe
ENST00000443588.1:c.22G>T	ENSP00000397785.1:p.Val8Phe
NM_000050.4:c.22G>T	NP_000041.2:p.Val8Phe
NM_054012.3:c.22G>T	NP_446464.1:p.Val8Phe
XM_005272200.2:c.22G>T	XP_005272257.1:p.Val8Phe
XM_011518705.1:c.136G>T	XP_011517007.1:p.Val46Phe
XM_005272200.3:c.22G>T	XP_005272257.1:p.Val8Phe
XM_011518705.2:c.136G>T	XP_011517007.1:p.Val46Phe
XM_017014729.1:c.118G>T	XP_016870218.1:p.Val40Phe
NM_054012.4:c.22G>T MANE Select	NP_446464.1:p.Val8Phe