Canonical Allele Identifier: CA7373848

Gene: ADSS1

Linked Data

• ClinVar Variation Id: 2163101
• ClinVar RCV Id: RCV003091610
• dbSNP Id: rs145665881
• ExAC: 14:105207580 G / A
• gnomAD v2: 14-105207580-G-A
• gnomAD v3: 14-104741243-G-A
• gnomAD v4: 14-104741243-G-A
• MyVariant Identifiers: chr14:g.105207580G>A (hg19) ; chr14:g.104741243G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741243G>A , CM000676.2:g.104741243G>A	GRCh38
NC_000014.8:g.105207580G>A , CM000676.1:g.105207580G>A	GRCh37
NC_000014.7:g.104278625G>A	NCBI36
NG_051175.1:g.22047G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.793G>A	ENSP00000518203.1:p.Gly265Arg
ENST00000330877.7:c.793G>A MANE Select	ENSP00000331260.2:p.Gly265Arg
ENST00000330877.6:c.793G>A	ENSP00000331260.2:p.Gly265Arg
ENST00000332972.9:c.922G>A	ENSP00000333019.5:p.Gly308Arg
ENST00000553540.5:c.905G>A	ENSP00000450759.1:n.905G>A
ENST00000555486.5:c.858G>A	ENSP00000473778.1:n.858G>A
ENST00000557582.5:n.1714G>A
NM_152328.3:c.793G>A	NP_689541.1:p.Gly265Arg
NM_199165.1:c.922G>A	NP_954634.1:p.Gly308Arg
XM_006720026.2:c.796G>A	XP_006720089.1:p.Gly266Arg
XM_011536412.1:c.925G>A	XP_011534714.1:p.Gly309Arg
XM_011536413.1:c.610G>A	XP_011534715.1:p.Gly204Arg
XM_011536414.1:c.607G>A	XP_011534716.1:p.Gly203Arg
XM_011536415.1:c.178G>A	XP_011534717.1:p.Gly60Arg
NM_001320424.1:c.178G>A	NP_001307353.1:p.Gly60Arg
NM_152328.4:c.793G>A	NP_689541.1:p.Gly265Arg
NM_199165.2:c.922G>A	NP_954634.1:p.Gly308Arg
XM_006720026.3:c.796G>A	XP_006720089.1:p.Gly266Arg
XM_011536412.2:c.925G>A	XP_011534714.1:p.Gly309Arg
XR_001750917.1:n.466C>T
NM_152328.5:c.793G>A MANE Select	NP_689541.1:p.Gly265Arg