Canonical Allele Identifier: CA391240402

Gene: ADSS1

Linked Data

• MyVariant Identifiers: chr14:g.105207472A>G (hg19) ; chr14:g.104741135A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741135A>G , CM000676.2:g.104741135A>G	GRCh38
NC_000014.8:g.105207472A>G , CM000676.1:g.105207472A>G	GRCh37
NC_000014.7:g.104278517A>G	NCBI36
NG_051175.1:g.21939A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.685A>G	ENSP00000518203.1:p.Arg229Gly
ENST00000330877.7:c.685A>G MANE Select	ENSP00000331260.2:p.Arg229Gly
ENST00000330877.6:c.685A>G	ENSP00000331260.2:p.Arg229Gly
ENST00000332972.9:c.814A>G	ENSP00000333019.5:p.Arg272Gly
ENST00000553540.5:c.797A>G	ENSP00000450759.1:n.797A>G
ENST00000555486.5:c.750A>G	ENSP00000473778.1:n.750A>G
ENST00000557582.5:n.1606A>G
NM_152328.3:c.685A>G	NP_689541.1:p.Arg229Gly
NM_199165.1:c.814A>G	NP_954634.1:p.Arg272Gly
XM_006720026.2:c.688A>G	XP_006720089.1:p.Arg230Gly
XM_011536412.1:c.817A>G	XP_011534714.1:p.Arg273Gly
XM_011536413.1:c.502A>G	XP_011534715.1:p.Arg168Gly
XM_011536414.1:c.499A>G	XP_011534716.1:p.Arg167Gly
XM_011536415.1:c.70A>G	XP_011534717.1:p.Arg24Gly
NM_001320424.1:c.70A>G	NP_001307353.1:p.Arg24Gly
NM_152328.4:c.685A>G	NP_689541.1:p.Arg229Gly
NM_199165.2:c.814A>G	NP_954634.1:p.Arg272Gly
XM_006720026.3:c.688A>G	XP_006720089.1:p.Arg230Gly
XM_011536412.2:c.817A>G	XP_011534714.1:p.Arg273Gly
NM_152328.5:c.685A>G MANE Select	NP_689541.1:p.Arg229Gly