Canonical Allele Identifier: CA488457360

Gene: ADSS1

Linked Data

• gnomAD v4: 14-104741200-C-A
• MyVariant Identifiers: chr14:g.105207537C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741200C>A , CM000676.2:g.104741200C>A	GRCh38
NC_000014.8:g.105207537C>A , CM000676.1:g.105207537C>A	GRCh37
NC_000014.7:g.104278582C>A	NCBI36
NG_051175.1:g.22004C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710323.1:c.750C>A	ENSP00000518203.1:p.Ile250=
ENST00000330877.7:c.750C>A MANE Select	ENSP00000331260.2:p.Ile250=
ENST00000330877.6:c.750C>A	ENSP00000331260.2:p.Ile250=
ENST00000332972.9:c.879C>A	ENSP00000333019.5:p.Ile293=
ENST00000553540.5:c.862C>A	ENSP00000450759.1:n.862C>A
ENST00000555486.5:c.815C>A	ENSP00000473778.1:n.815C>A
ENST00000557582.5:n.1671C>A
NM_152328.3:c.750C>A	NP_689541.1:p.Ile250=
NM_199165.1:c.879C>A	NP_954634.1:p.Ile293=
XM_006720026.2:c.753C>A	XP_006720089.1:p.Ile251=
XM_011536412.1:c.882C>A	XP_011534714.1:p.Ile294=
XM_011536413.1:c.567C>A	XP_011534715.1:p.Ile189=
XM_011536414.1:c.564C>A	XP_011534716.1:p.Ile188=
XM_011536415.1:c.135C>A	XP_011534717.1:p.Ile45=
NM_001320424.1:c.135C>A	NP_001307353.1:p.Ile45=
NM_152328.4:c.750C>A	NP_689541.1:p.Ile250=
NM_199165.2:c.879C>A	NP_954634.1:p.Ile293=
XM_006720026.3:c.753C>A	XP_006720089.1:p.Ile251=
XM_011536412.2:c.882C>A	XP_011534714.1:p.Ile294=
XR_001750917.1:n.509G>T
NM_152328.5:c.750C>A MANE Select	NP_689541.1:p.Ile250=