Canonical Allele Identifier: CA391240409

Gene: ADSS1

Linked Data

• MyVariant Identifiers: chr14:g.105207474A>C (hg19) ; chr14:g.104741137A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741137A>C , CM000676.2:g.104741137A>C	GRCh38
NC_000014.8:g.105207474A>C , CM000676.1:g.105207474A>C	GRCh37
NC_000014.7:g.104278519A>C	NCBI36
NG_051175.1:g.21941A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.687A>C	ENSP00000518203.1:p.Arg229Ser
ENST00000330877.7:c.687A>C MANE Select	ENSP00000331260.2:p.Arg229Ser
ENST00000330877.6:c.687A>C	ENSP00000331260.2:p.Arg229Ser
ENST00000332972.9:c.816A>C	ENSP00000333019.5:p.Arg272Ser
ENST00000553540.5:c.799A>C	ENSP00000450759.1:n.799A>C
ENST00000555486.5:c.752A>C	ENSP00000473778.1:n.752A>C
ENST00000557582.5:n.1608A>C
NM_152328.3:c.687A>C	NP_689541.1:p.Arg229Ser
NM_199165.1:c.816A>C	NP_954634.1:p.Arg272Ser
XM_006720026.2:c.690A>C	XP_006720089.1:p.Arg230Ser
XM_011536412.1:c.819A>C	XP_011534714.1:p.Arg273Ser
XM_011536413.1:c.504A>C	XP_011534715.1:p.Arg168Ser
XM_011536414.1:c.501A>C	XP_011534716.1:p.Arg167Ser
XM_011536415.1:c.72A>C	XP_011534717.1:p.Arg24Ser
NM_001320424.1:c.72A>C	NP_001307353.1:p.Arg24Ser
NM_152328.4:c.687A>C	NP_689541.1:p.Arg229Ser
NM_199165.2:c.816A>C	NP_954634.1:p.Arg272Ser
XM_006720026.3:c.690A>C	XP_006720089.1:p.Arg230Ser
XM_011536412.2:c.819A>C	XP_011534714.1:p.Arg273Ser
NM_152328.5:c.687A>C MANE Select	NP_689541.1:p.Arg229Ser