Canonical Allele Identifier: CA7373813

Gene: ADSS1

Linked Data

• ClinVar Variation Id: 2187199
• ClinVar RCV Id: RCV002611416
• dbSNP Id: rs774970978
• ExAC: 14:105207478 A / G
• gnomAD v2: 14-105207478-A-G
• gnomAD v3: 14-104741141-A-G
• gnomAD v4: 14-104741141-A-G
• MyVariant Identifiers: chr14:g.105207478A>G (hg19) ; chr14:g.104741141A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741141A>G , CM000676.2:g.104741141A>G	GRCh38
NC_000014.8:g.105207478A>G , CM000676.1:g.105207478A>G	GRCh37
NC_000014.7:g.104278523A>G	NCBI36
NG_051175.1:g.21945A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.691A>G	ENSP00000518203.1:p.Met231Val
ENST00000330877.7:c.691A>G MANE Select	ENSP00000331260.2:p.Met231Val
ENST00000330877.6:c.691A>G	ENSP00000331260.2:p.Met231Val
ENST00000332972.9:c.820A>G	ENSP00000333019.5:p.Met274Val
ENST00000553540.5:c.803A>G	ENSP00000450759.1:n.803A>G
ENST00000555486.5:c.756A>G	ENSP00000473778.1:n.756A>G
ENST00000557582.5:n.1612A>G
NM_152328.3:c.691A>G	NP_689541.1:p.Met231Val
NM_199165.1:c.820A>G	NP_954634.1:p.Met274Val
XM_006720026.2:c.694A>G	XP_006720089.1:p.Met232Val
XM_011536412.1:c.823A>G	XP_011534714.1:p.Met275Val
XM_011536413.1:c.508A>G	XP_011534715.1:p.Met170Val
XM_011536414.1:c.505A>G	XP_011534716.1:p.Met169Val
XM_011536415.1:c.76A>G	XP_011534717.1:p.Met26Val
NM_001320424.1:c.76A>G	NP_001307353.1:p.Met26Val
NM_152328.4:c.691A>G	NP_689541.1:p.Met231Val
NM_199165.2:c.820A>G	NP_954634.1:p.Met274Val
XM_006720026.3:c.694A>G	XP_006720089.1:p.Met232Val
XM_011536412.2:c.823A>G	XP_011534714.1:p.Met275Val
NM_152328.5:c.691A>G MANE Select	NP_689541.1:p.Met231Val