Canonical Allele Identifier: CA391240355

Gene: ADSS1

Linked Data

• MyVariant Identifiers: chr14:g.105207464A>C (hg19) ; chr14:g.104741127A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741127A>C , CM000676.2:g.104741127A>C	GRCh38
NC_000014.8:g.105207464A>C , CM000676.1:g.105207464A>C	GRCh37
NC_000014.7:g.104278509A>C	NCBI36
NG_051175.1:g.21931A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710323.1:c.677A>C	ENSP00000518203.1:p.Glu226Ala
ENST00000330877.7:c.677A>C MANE Select	ENSP00000331260.2:p.Glu226Ala
ENST00000330877.6:c.677A>C	ENSP00000331260.2:p.Glu226Ala
ENST00000332972.9:c.806A>C	ENSP00000333019.5:p.Glu269Ala
ENST00000553540.5:c.789A>C	ENSP00000450759.1:n.789A>C
ENST00000555486.5:c.742A>C	ENSP00000473778.1:n.742A>C
ENST00000557582.5:n.1598A>C
NM_152328.3:c.677A>C	NP_689541.1:p.Glu226Ala
NM_199165.1:c.806A>C	NP_954634.1:p.Glu269Ala
XM_006720026.2:c.680A>C	XP_006720089.1:p.Glu227Ala
XM_011536412.1:c.809A>C	XP_011534714.1:p.Glu270Ala
XM_011536413.1:c.494A>C	XP_011534715.1:p.Glu165Ala
XM_011536414.1:c.491A>C	XP_011534716.1:p.Glu164Ala
XM_011536415.1:c.62A>C	XP_011534717.1:p.Glu21Ala
NM_001320424.1:c.62A>C	NP_001307353.1:p.Glu21Ala
NM_152328.4:c.677A>C	NP_689541.1:p.Glu226Ala
NM_199165.2:c.806A>C	NP_954634.1:p.Glu269Ala
XM_006720026.3:c.680A>C	XP_006720089.1:p.Glu227Ala
XM_011536412.2:c.809A>C	XP_011534714.1:p.Glu270Ala
NM_152328.5:c.677A>C MANE Select	NP_689541.1:p.Glu226Ala