Canonical Allele Identifier: CA703400844

Gene: ADSS1

Linked Data

• dbSNP Id: rs1315012961
• gnomAD v3: 14-104741293-A-C
• gnomAD v4: 14-104741293-A-C
• MyVariant Identifiers: chr14:g.105207630A>C (hg19) ; chr14:g.104741293A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741293A>C , CM000676.2:g.104741293A>C	GRCh38
NC_000014.8:g.105207630A>C , CM000676.1:g.105207630A>C	GRCh37
NC_000014.7:g.104278675A>C	NCBI36
NG_051175.1:g.22097A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710323.1:c.793+50A>C	ENSP00000518203.1:n.793+50A>C
ENST00000330877.7:c.793+50A>C MANE Select	ENSP00000331260.2:n.793+50A>C
ENST00000330877.6:c.793+50A>C	ENSP00000331260.2:n.793+50A>C
ENST00000332972.9:c.922+50A>C	ENSP00000333019.5:n.922+50A>C
ENST00000553540.5:c.905+50A>C	ENSP00000450759.1:n.905+50A>C
ENST00000555486.5:c.858+50A>C	ENSP00000473778.1:n.858+50A>C
ENST00000557582.5:n.1714+50A>C
NM_152328.3:c.793+50A>C	NP_689541.1:n.793+50A>C
NM_199165.1:c.922+50A>C	NP_954634.1:n.922+50A>C
XM_006720026.2:c.796+50A>C	XP_006720089.1:n.796+50A>C
XM_011536412.1:c.925+50A>C	XP_011534714.1:n.925+50A>C
XM_011536413.1:c.610+50A>C	XP_011534715.1:n.610+50A>C
XM_011536414.1:c.607+50A>C	XP_011534716.1:n.607+50A>C
XM_011536415.1:c.178+50A>C	XP_011534717.1:n.178+50A>C
NM_001320424.1:c.178+50A>C	NP_001307353.1:n.178+50A>C
NM_152328.4:c.793+50A>C	NP_689541.1:n.793+50A>C
NM_199165.2:c.922+50A>C	NP_954634.1:n.922+50A>C
XM_006720026.3:c.796+50A>C	XP_006720089.1:n.796+50A>C
XM_011536412.2:c.925+50A>C	XP_011534714.1:n.925+50A>C
XR_001750917.1:n.416T>G
NM_152328.5:c.793+50A>C MANE Select	NP_689541.1:n.793+50A>C