Canonical Allele Identifier: CA467384747

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133355104G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130479717G>C , CM000671.2:g.130479717G>C	GRCh38
NC_000009.11:g.133355104G>C , CM000671.1:g.133355104G>C	GRCh37
NC_000009.10:g.132344925G>C	NCBI36
NG_011542.1:g.40011G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.690G>C MANE Select	ENSP00000253004.6:p.Gly230=
ENST00000352480.9:c.690G>C	ENSP00000253004.6:p.Gly230=
ENST00000372393.7:c.690G>C	ENSP00000361469.2:p.Gly230=
ENST00000372394.5:c.690G>C	ENSP00000361471.1:p.Gly230=
ENST00000467695.5:n.399G>C
ENST00000470849.4:n.415G>C
ENST00000492400.5:n.199G>C
ENST00000493984.6:n.513-46G>C
NM_000050.4:c.690G>C	NP_000041.2:p.Gly230=
NM_054012.3:c.690G>C	NP_446464.1:p.Gly230=
XM_005272200.2:c.690G>C	XP_005272257.1:p.Gly230=
XM_011518705.1:c.804G>C	XP_011517007.1:p.Gly268=
XM_005272200.3:c.690G>C	XP_005272257.1:p.Gly230=
XM_011518705.2:c.804G>C	XP_011517007.1:p.Gly268=
XM_017014729.1:c.786G>C	XP_016870218.1:p.Gly262=
NM_054012.4:c.690G>C MANE Select	NP_446464.1:p.Gly230=