Canonical Allele Identifier: CA7373810

Gene: ADSS1

Linked Data

• dbSNP Id: rs374287153
• ExAC: 14:105207468 G / A
• gnomAD v2: 14-105207468-G-A
• gnomAD v3: 14-104741131-G-A
• gnomAD v4: 14-104741131-G-A
• MyVariant Identifiers: chr14:g.105207468G>A (hg19) ; chr14:g.104741131G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741131G>A , CM000676.2:g.104741131G>A	GRCh38
NC_000014.8:g.105207468G>A , CM000676.1:g.105207468G>A	GRCh37
NC_000014.7:g.104278513G>A	NCBI36
NG_051175.1:g.21935G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.681G>A	ENSP00000518203.1:p.Arg227=
ENST00000330877.7:c.681G>A MANE Select	ENSP00000331260.2:p.Arg227=
ENST00000330877.6:c.681G>A	ENSP00000331260.2:p.Arg227=
ENST00000332972.9:c.810G>A	ENSP00000333019.5:p.Arg270=
ENST00000553540.5:c.793G>A	ENSP00000450759.1:n.793G>A
ENST00000555486.5:c.746G>A	ENSP00000473778.1:n.746G>A
ENST00000557582.5:n.1602G>A
NM_152328.3:c.681G>A	NP_689541.1:p.Arg227=
NM_199165.1:c.810G>A	NP_954634.1:p.Arg270=
XM_006720026.2:c.684G>A	XP_006720089.1:p.Arg228=
XM_011536412.1:c.813G>A	XP_011534714.1:p.Arg271=
XM_011536413.1:c.498G>A	XP_011534715.1:p.Arg166=
XM_011536414.1:c.495G>A	XP_011534716.1:p.Arg165=
XM_011536415.1:c.66G>A	XP_011534717.1:p.Arg22=
NM_001320424.1:c.66G>A	NP_001307353.1:p.Arg22=
NM_152328.4:c.681G>A	NP_689541.1:p.Arg227=
NM_199165.2:c.810G>A	NP_954634.1:p.Arg270=
XM_006720026.3:c.684G>A	XP_006720089.1:p.Arg228=
XM_011536412.2:c.813G>A	XP_011534714.1:p.Arg271=
NM_152328.5:c.681G>A MANE Select	NP_689541.1:p.Arg227=