Canonical Allele Identifier: CA375227447

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133346874A>G (hg19) ; chr9:g.130471487A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130471487A>G , CM000671.2:g.130471487A>G	GRCh38
NC_000009.11:g.133346874A>G , CM000671.1:g.133346874A>G	GRCh37
NC_000009.10:g.132336695A>G	NCBI36
NG_011542.1:g.31781A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.569A>G MANE Select	ENSP00000253004.6:p.Tyr190Cys
ENST00000352480.9:c.569A>G	ENSP00000253004.6:p.Tyr190Cys
ENST00000372393.7:c.569A>G	ENSP00000361469.2:p.Tyr190Cys
ENST00000372394.5:c.569A>G	ENSP00000361471.1:p.Tyr190Cys
ENST00000422569.5:c.569A>G	ENSP00000394212.1:p.Tyr190Cys
ENST00000443588.1:c.512A>G	ENSP00000397785.1:p.Tyr171Cys
ENST00000467695.5:n.278A>G
ENST00000493984.6:n.400A>G
NM_000050.4:c.569A>G	NP_000041.2:p.Tyr190Cys
NM_054012.3:c.569A>G	NP_446464.1:p.Tyr190Cys
XM_005272200.2:c.569A>G	XP_005272257.1:p.Tyr190Cys
XM_011518705.1:c.683A>G	XP_011517007.1:p.Tyr228Cys
XM_005272200.3:c.569A>G	XP_005272257.1:p.Tyr190Cys
XM_011518705.2:c.683A>G	XP_011517007.1:p.Tyr228Cys
XM_017014729.1:c.665A>G	XP_016870218.1:p.Tyr222Cys
NM_054012.4:c.569A>G MANE Select	NP_446464.1:p.Tyr190Cys