Canonical Allele Identifier: CA375227513

Gene: ASS1

Linked Data

• gnomAD v4: 9-130471504-G-C
• MyVariant Identifiers: chr9:g.133346891G>C (hg19) ; chr9:g.130471504G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130471504G>C , CM000671.2:g.130471504G>C	GRCh38
NC_000009.11:g.133346891G>C , CM000671.1:g.133346891G>C	GRCh37
NC_000009.10:g.132336712G>C	NCBI36
NG_011542.1:g.31798G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.586G>C MANE Select	ENSP00000253004.6:p.Glu196Gln
ENST00000352480.9:c.586G>C	ENSP00000253004.6:p.Glu196Gln
ENST00000372393.7:c.586G>C	ENSP00000361469.2:p.Glu196Gln
ENST00000372394.5:c.586G>C	ENSP00000361471.1:p.Glu196Gln
ENST00000422569.5:c.586G>C	ENSP00000394212.1:p.Glu196Gln
ENST00000443588.1:c.529G>C	ENSP00000397785.1:p.Glu177Gln
ENST00000467695.5:n.295G>C
ENST00000493984.6:n.417G>C
NM_000050.4:c.586G>C	NP_000041.2:p.Glu196Gln
NM_054012.3:c.586G>C	NP_446464.1:p.Glu196Gln
XM_005272200.2:c.586G>C	XP_005272257.1:p.Glu196Gln
XM_011518705.1:c.700G>C	XP_011517007.1:p.Glu234Gln
XM_005272200.3:c.586G>C	XP_005272257.1:p.Glu196Gln
XM_011518705.2:c.700G>C	XP_011517007.1:p.Glu234Gln
XM_017014729.1:c.682G>C	XP_016870218.1:p.Glu228Gln
NM_054012.4:c.586G>C MANE Select	NP_446464.1:p.Glu196Gln