Canonical Allele Identifier: CA5283211

Gene: ASS1

Linked Data

• dbSNP Id: rs780509094
• ExAC: 9:133333873 A / T
• gnomAD v2: 9-133333873-A-T
• gnomAD v4: 9-130458486-A-T
• MyVariant Identifiers: chr9:g.133333873A>T (hg19) ; chr9:g.130458486A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130458486A>T , CM000671.2:g.130458486A>T	GRCh38
NC_000009.11:g.133333873A>T , CM000671.1:g.133333873A>T	GRCh37
NC_000009.10:g.132323694A>T	NCBI36
NG_011542.1:g.18780A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.260A>T MANE Select	ENSP00000253004.6:p.Tyr87Phe
ENST00000352480.9:c.260A>T	ENSP00000253004.6:p.Tyr87Phe
ENST00000372393.7:c.260A>T	ENSP00000361469.2:p.Tyr87Phe
ENST00000372394.5:c.260A>T	ENSP00000361471.1:p.Tyr87Phe
ENST00000422569.5:c.260A>T	ENSP00000394212.1:p.Tyr87Phe
ENST00000443588.1:c.260A>T	ENSP00000397785.1:p.Tyr87Phe
NM_000050.4:c.260A>T	NP_000041.2:p.Tyr87Phe
NM_054012.3:c.260A>T	NP_446464.1:p.Tyr87Phe
XM_005272200.2:c.260A>T	XP_005272257.1:p.Tyr87Phe
XM_011518705.1:c.374A>T	XP_011517007.1:p.Tyr125Phe
XM_005272200.3:c.260A>T	XP_005272257.1:p.Tyr87Phe
XM_011518705.2:c.374A>T	XP_011517007.1:p.Tyr125Phe
XM_017014729.1:c.356A>T	XP_016870218.1:p.Tyr119Phe
NM_054012.4:c.260A>T MANE Select	NP_446464.1:p.Tyr87Phe