Canonical Allele Identifier: CA488457323

Gene: ADSS1

Linked Data

• MyVariant Identifiers: chr14:g.105207477C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741140C>A , CM000676.2:g.104741140C>A	GRCh38
NC_000014.8:g.105207477C>A , CM000676.1:g.105207477C>A	GRCh37
NC_000014.7:g.104278522C>A	NCBI36
NG_051175.1:g.21944C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.690C>A	ENSP00000518203.1:p.Pro230=
ENST00000330877.7:c.690C>A MANE Select	ENSP00000331260.2:p.Pro230=
ENST00000330877.6:c.690C>A	ENSP00000331260.2:p.Pro230=
ENST00000332972.9:c.819C>A	ENSP00000333019.5:p.Pro273=
ENST00000553540.5:c.802C>A	ENSP00000450759.1:n.802C>A
ENST00000555486.5:c.755C>A	ENSP00000473778.1:n.755C>A
ENST00000557582.5:n.1611C>A
NM_152328.3:c.690C>A	NP_689541.1:p.Pro230=
NM_199165.1:c.819C>A	NP_954634.1:p.Pro273=
XM_006720026.2:c.693C>A	XP_006720089.1:p.Pro231=
XM_011536412.1:c.822C>A	XP_011534714.1:p.Pro274=
XM_011536413.1:c.507C>A	XP_011534715.1:p.Pro169=
XM_011536414.1:c.504C>A	XP_011534716.1:p.Pro168=
XM_011536415.1:c.75C>A	XP_011534717.1:p.Pro25=
NM_001320424.1:c.75C>A	NP_001307353.1:p.Pro25=
NM_152328.4:c.690C>A	NP_689541.1:p.Pro230=
NM_199165.2:c.819C>A	NP_954634.1:p.Pro273=
XM_006720026.3:c.693C>A	XP_006720089.1:p.Pro231=
XM_011536412.2:c.822C>A	XP_011534714.1:p.Pro274=
NM_152328.5:c.690C>A MANE Select	NP_689541.1:p.Pro230=