Canonical Allele Identifier: CA391240846

Gene: ADSS1

Linked Data

• MyVariant Identifiers: chr14:g.105207576C>G (hg19) ; chr14:g.104741239C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741239C>G , CM000676.2:g.104741239C>G	GRCh38
NC_000014.8:g.105207576C>G , CM000676.1:g.105207576C>G	GRCh37
NC_000014.7:g.104278621C>G	NCBI36
NG_051175.1:g.22043C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.789C>G	ENSP00000518203.1:p.Asp263Glu
ENST00000330877.7:c.789C>G MANE Select	ENSP00000331260.2:p.Asp263Glu
ENST00000330877.6:c.789C>G	ENSP00000331260.2:p.Asp263Glu
ENST00000332972.9:c.918C>G	ENSP00000333019.5:p.Asp306Glu
ENST00000553540.5:c.901C>G	ENSP00000450759.1:n.901C>G
ENST00000555486.5:c.854C>G	ENSP00000473778.1:n.854C>G
ENST00000557582.5:n.1710C>G
NM_152328.3:c.789C>G	NP_689541.1:p.Asp263Glu
NM_199165.1:c.918C>G	NP_954634.1:p.Asp306Glu
XM_006720026.2:c.792C>G	XP_006720089.1:p.Asp264Glu
XM_011536412.1:c.921C>G	XP_011534714.1:p.Asp307Glu
XM_011536413.1:c.606C>G	XP_011534715.1:p.Asp202Glu
XM_011536414.1:c.603C>G	XP_011534716.1:p.Asp201Glu
XM_011536415.1:c.174C>G	XP_011534717.1:p.Asp58Glu
NM_001320424.1:c.174C>G	NP_001307353.1:p.Asp58Glu
NM_152328.4:c.789C>G	NP_689541.1:p.Asp263Glu
NM_199165.2:c.918C>G	NP_954634.1:p.Asp306Glu
XM_006720026.3:c.792C>G	XP_006720089.1:p.Asp264Glu
XM_011536412.2:c.921C>G	XP_011534714.1:p.Asp307Glu
XR_001750917.1:n.470G>C
NM_152328.5:c.789C>G MANE Select	NP_689541.1:p.Asp263Glu