Canonical Allele Identifier: CA391240820

Gene: ADSS1

Linked Data

• COSMIC: COSM1188924
• MyVariant Identifiers: chr14:g.105207571A>G (hg19) ; chr14:g.104741234A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741234A>G , CM000676.2:g.104741234A>G	GRCh38
NC_000014.8:g.105207571A>G , CM000676.1:g.105207571A>G	GRCh37
NC_000014.7:g.104278616A>G	NCBI36
NG_051175.1:g.22038A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.784A>G	ENSP00000518203.1:p.Ile262Val
ENST00000330877.7:c.784A>G MANE Select	ENSP00000331260.2:p.Ile262Val
ENST00000330877.6:c.784A>G	ENSP00000331260.2:p.Ile262Val
ENST00000332972.9:c.913A>G	ENSP00000333019.5:p.Ile305Val
ENST00000553540.5:c.896A>G	ENSP00000450759.1:n.896A>G
ENST00000555486.5:c.849A>G	ENSP00000473778.1:n.849A>G
ENST00000557582.5:n.1705A>G
NM_152328.3:c.784A>G	NP_689541.1:p.Ile262Val
NM_199165.1:c.913A>G	NP_954634.1:p.Ile305Val
XM_006720026.2:c.787A>G	XP_006720089.1:p.Ile263Val
XM_011536412.1:c.916A>G	XP_011534714.1:p.Ile306Val
XM_011536413.1:c.601A>G	XP_011534715.1:p.Ile201Val
XM_011536414.1:c.598A>G	XP_011534716.1:p.Ile200Val
XM_011536415.1:c.169A>G	XP_011534717.1:p.Ile57Val
NM_001320424.1:c.169A>G	NP_001307353.1:p.Ile57Val
NM_152328.4:c.784A>G	NP_689541.1:p.Ile262Val
NM_199165.2:c.913A>G	NP_954634.1:p.Ile305Val
XM_006720026.3:c.787A>G	XP_006720089.1:p.Ile263Val
XM_011536412.2:c.916A>G	XP_011534714.1:p.Ile306Val
XR_001750917.1:n.475T>C
NM_152328.5:c.784A>G MANE Select	NP_689541.1:p.Ile262Val