Canonical Allele Identifier: CA391240412

Gene: ADSS1

Linked Data

• MyVariant Identifiers: chr14:g.105207475C>A (hg19) ; chr14:g.104741138C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741138C>A , CM000676.2:g.104741138C>A	GRCh38
NC_000014.8:g.105207475C>A , CM000676.1:g.105207475C>A	GRCh37
NC_000014.7:g.104278520C>A	NCBI36
NG_051175.1:g.21942C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.688C>A	ENSP00000518203.1:p.Pro230Thr
ENST00000330877.7:c.688C>A MANE Select	ENSP00000331260.2:p.Pro230Thr
ENST00000330877.6:c.688C>A	ENSP00000331260.2:p.Pro230Thr
ENST00000332972.9:c.817C>A	ENSP00000333019.5:p.Pro273Thr
ENST00000553540.5:c.800C>A	ENSP00000450759.1:n.800C>A
ENST00000555486.5:c.753C>A	ENSP00000473778.1:n.753C>A
ENST00000557582.5:n.1609C>A
NM_152328.3:c.688C>A	NP_689541.1:p.Pro230Thr
NM_199165.1:c.817C>A	NP_954634.1:p.Pro273Thr
XM_006720026.2:c.691C>A	XP_006720089.1:p.Pro231Thr
XM_011536412.1:c.820C>A	XP_011534714.1:p.Pro274Thr
XM_011536413.1:c.505C>A	XP_011534715.1:p.Pro169Thr
XM_011536414.1:c.502C>A	XP_011534716.1:p.Pro168Thr
XM_011536415.1:c.73C>A	XP_011534717.1:p.Pro25Thr
NM_001320424.1:c.73C>A	NP_001307353.1:p.Pro25Thr
NM_152328.4:c.688C>A	NP_689541.1:p.Pro230Thr
NM_199165.2:c.817C>A	NP_954634.1:p.Pro273Thr
XM_006720026.3:c.691C>A	XP_006720089.1:p.Pro231Thr
XM_011536412.2:c.820C>A	XP_011534714.1:p.Pro274Thr
NM_152328.5:c.688C>A MANE Select	NP_689541.1:p.Pro230Thr