Canonical Allele Identifier: CA391240415

Gene: ADSS1

Linked Data

• gnomAD v4: 14-104741138-C-T
• MyVariant Identifiers: chr14:g.105207475C>T (hg19) ; chr14:g.104741138C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.688C>T	ENSP00000518203.1:p.Pro230Ser
ENST00000330877.7:c.688C>T MANE Select	ENSP00000331260.2:p.Pro230Ser
ENST00000330877.6:c.688C>T	ENSP00000331260.2:p.Pro230Ser
ENST00000332972.9:c.817C>T	ENSP00000333019.5:p.Pro273Ser
ENST00000553540.5:c.800C>T	ENSP00000450759.1:n.800C>T
ENST00000555486.5:c.753C>T	ENSP00000473778.1:n.753C>T
ENST00000557582.5:n.1609C>T
NM_152328.3:c.688C>T	NP_689541.1:p.Pro230Ser
NM_199165.1:c.817C>T	NP_954634.1:p.Pro273Ser
XM_006720026.2:c.691C>T	XP_006720089.1:p.Pro231Ser
XM_011536412.1:c.820C>T	XP_011534714.1:p.Pro274Ser
XM_011536413.1:c.505C>T	XP_011534715.1:p.Pro169Ser
XM_011536414.1:c.502C>T	XP_011534716.1:p.Pro168Ser
XM_011536415.1:c.73C>T	XP_011534717.1:p.Pro25Ser
NM_001320424.1:c.73C>T	NP_001307353.1:p.Pro25Ser
NM_152328.4:c.688C>T	NP_689541.1:p.Pro230Ser
NM_199165.2:c.817C>T	NP_954634.1:p.Pro273Ser
XM_006720026.3:c.691C>T	XP_006720089.1:p.Pro231Ser
XM_011536412.2:c.820C>T	XP_011534714.1:p.Pro274Ser
NM_152328.5:c.688C>T MANE Select	NP_689541.1:p.Pro230Ser