Canonical Allele Identifier: CA2626827906

Gene: ADSS1

Linked Data

• gnomAD v4: 14-104741312-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741312C>A , CM000676.2:g.104741312C>A	GRCh38
NC_000014.8:g.105207649C>A , CM000676.1:g.105207649C>A	GRCh37
NC_000014.7:g.104278694C>A	NCBI36
NG_051175.1:g.22116C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710323.1:c.793+69C>A	ENSP00000518203.1:n.793+69C>A
ENST00000330877.7:c.793+69C>A MANE Select	ENSP00000331260.2:n.793+69C>A
ENST00000330877.6:c.793+69C>A	ENSP00000331260.2:n.793+69C>A
ENST00000332972.9:c.922+69C>A	ENSP00000333019.5:n.922+69C>A
ENST00000553540.5:c.905+69C>A	ENSP00000450759.1:n.905+69C>A
ENST00000555486.5:c.858+69C>A	ENSP00000473778.1:n.858+69C>A
ENST00000557582.5:n.1714+69C>A
NM_152328.3:c.793+69C>A	NP_689541.1:n.793+69C>A
NM_199165.1:c.922+69C>A	NP_954634.1:n.922+69C>A
XM_006720026.2:c.796+69C>A	XP_006720089.1:n.796+69C>A
XM_011536412.1:c.925+69C>A	XP_011534714.1:n.925+69C>A
XM_011536413.1:c.610+69C>A	XP_011534715.1:n.610+69C>A
XM_011536414.1:c.607+69C>A	XP_011534716.1:n.607+69C>A
XM_011536415.1:c.178+69C>A	XP_011534717.1:n.178+69C>A
NM_001320424.1:c.178+69C>A	NP_001307353.1:n.178+69C>A
NM_152328.4:c.793+69C>A	NP_689541.1:n.793+69C>A
NM_199165.2:c.922+69C>A	NP_954634.1:n.922+69C>A
XM_006720026.3:c.796+69C>A	XP_006720089.1:n.796+69C>A
XM_011536412.2:c.925+69C>A	XP_011534714.1:n.925+69C>A
XR_001750917.1:n.397G>T
NM_152328.5:c.793+69C>A MANE Select	NP_689541.1:n.793+69C>A