Canonical Allele Identifier: CA391240405

Gene: ADSS1

Linked Data

• MyVariant Identifiers: chr14:g.105207473G>T (hg19) ; chr14:g.104741136G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741136G>T , CM000676.2:g.104741136G>T	GRCh38
NC_000014.8:g.105207473G>T , CM000676.1:g.105207473G>T	GRCh37
NC_000014.7:g.104278518G>T	NCBI36
NG_051175.1:g.21940G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.686G>T	ENSP00000518203.1:p.Arg229Ile
ENST00000330877.7:c.686G>T MANE Select	ENSP00000331260.2:p.Arg229Ile
ENST00000330877.6:c.686G>T	ENSP00000331260.2:p.Arg229Ile
ENST00000332972.9:c.815G>T	ENSP00000333019.5:p.Arg272Ile
ENST00000553540.5:c.798G>T	ENSP00000450759.1:n.798G>T
ENST00000555486.5:c.751G>T	ENSP00000473778.1:n.751G>T
ENST00000557582.5:n.1607G>T
NM_152328.3:c.686G>T	NP_689541.1:p.Arg229Ile
NM_199165.1:c.815G>T	NP_954634.1:p.Arg272Ile
XM_006720026.2:c.689G>T	XP_006720089.1:p.Arg230Ile
XM_011536412.1:c.818G>T	XP_011534714.1:p.Arg273Ile
XM_011536413.1:c.503G>T	XP_011534715.1:p.Arg168Ile
XM_011536414.1:c.500G>T	XP_011534716.1:p.Arg167Ile
XM_011536415.1:c.71G>T	XP_011534717.1:p.Arg24Ile
NM_001320424.1:c.71G>T	NP_001307353.1:p.Arg24Ile
NM_152328.4:c.686G>T	NP_689541.1:p.Arg229Ile
NM_199165.2:c.815G>T	NP_954634.1:p.Arg272Ile
XM_006720026.3:c.689G>T	XP_006720089.1:p.Arg230Ile
XM_011536412.2:c.818G>T	XP_011534714.1:p.Arg273Ile
NM_152328.5:c.686G>T MANE Select	NP_689541.1:p.Arg229Ile