Canonical Allele Identifier: CA375230458

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133364728G>C (hg19) ; chr9:g.130489341G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489341G>C , CM000671.2:g.130489341G>C	GRCh38
NC_000009.11:g.133364728G>C , CM000671.1:g.133364728G>C	GRCh37
NC_000009.10:g.132354549G>C	NCBI36
NG_011542.1:g.49635G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.847G>C MANE Select	ENSP00000253004.6:p.Glu283Gln
ENST00000352480.9:c.847G>C	ENSP00000253004.6:p.Glu283Gln
ENST00000372386.6:n.118G>C
ENST00000372393.7:c.847G>C	ENSP00000361469.2:p.Glu283Gln
ENST00000372394.5:c.847G>C	ENSP00000361471.1:p.Glu283Gln
ENST00000470849.4:n.572G>C
ENST00000492400.5:n.356G>C
ENST00000493984.6:n.624G>C
NM_000050.4:c.847G>C	NP_000041.2:p.Glu283Gln
NM_054012.3:c.847G>C	NP_446464.1:p.Glu283Gln
XM_005272200.2:c.847G>C	XP_005272257.1:p.Glu283Gln
XM_011518705.1:c.961G>C	XP_011517007.1:p.Glu321Gln
XM_005272200.3:c.847G>C	XP_005272257.1:p.Glu283Gln
XM_011518705.2:c.961G>C	XP_011517007.1:p.Glu321Gln
XM_017014729.1:c.943G>C	XP_016870218.1:p.Glu315Gln
NM_054012.4:c.847G>C MANE Select	NP_446464.1:p.Glu283Gln