Canonical Allele Identifier: CA391240852

Gene: ADSS1

Linked Data

• MyVariant Identifiers: chr14:g.105207577T>G (hg19) ; chr14:g.104741240T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741240T>G , CM000676.2:g.104741240T>G	GRCh38
NC_000014.8:g.105207577T>G , CM000676.1:g.105207577T>G	GRCh37
NC_000014.7:g.104278622T>G	NCBI36
NG_051175.1:g.22044T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.790T>G	ENSP00000518203.1:p.Phe264Val
ENST00000330877.7:c.790T>G MANE Select	ENSP00000331260.2:p.Phe264Val
ENST00000330877.6:c.790T>G	ENSP00000331260.2:p.Phe264Val
ENST00000332972.9:c.919T>G	ENSP00000333019.5:p.Phe307Val
ENST00000553540.5:c.902T>G	ENSP00000450759.1:n.902T>G
ENST00000555486.5:c.855T>G	ENSP00000473778.1:n.855T>G
ENST00000557582.5:n.1711T>G
NM_152328.3:c.790T>G	NP_689541.1:p.Phe264Val
NM_199165.1:c.919T>G	NP_954634.1:p.Phe307Val
XM_006720026.2:c.793T>G	XP_006720089.1:p.Phe265Val
XM_011536412.1:c.922T>G	XP_011534714.1:p.Phe308Val
XM_011536413.1:c.607T>G	XP_011534715.1:p.Phe203Val
XM_011536414.1:c.604T>G	XP_011534716.1:p.Phe202Val
XM_011536415.1:c.175T>G	XP_011534717.1:p.Phe59Val
NM_001320424.1:c.175T>G	NP_001307353.1:p.Phe59Val
NM_152328.4:c.790T>G	NP_689541.1:p.Phe264Val
NM_199165.2:c.919T>G	NP_954634.1:p.Phe307Val
XM_006720026.3:c.793T>G	XP_006720089.1:p.Phe265Val
XM_011536412.2:c.922T>G	XP_011534714.1:p.Phe308Val
XR_001750917.1:n.469A>C
NM_152328.5:c.790T>G MANE Select	NP_689541.1:p.Phe264Val