Canonical Allele Identifier: CA488457297

Gene: ADSS1

Linked Data

• gnomAD v4: 14-104741131-G-C
• MyVariant Identifiers: chr14:g.105207468G>C (hg19)

Genomic Alleles

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

Transcript Alleles

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