Canonical Allele Identifier: CA391240837

Gene: ADSS1

Linked Data

• gnomAD v4: 14-104741237-G-T
• MyVariant Identifiers: chr14:g.105207574G>T (hg19) ; chr14:g.104741237G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741237G>T , CM000676.2:g.104741237G>T	GRCh38
NC_000014.8:g.105207574G>T , CM000676.1:g.105207574G>T	GRCh37
NC_000014.7:g.104278619G>T	NCBI36
NG_051175.1:g.22041G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.787G>T	ENSP00000518203.1:p.Asp263Tyr
ENST00000330877.7:c.787G>T MANE Select	ENSP00000331260.2:p.Asp263Tyr
ENST00000330877.6:c.787G>T	ENSP00000331260.2:p.Asp263Tyr
ENST00000332972.9:c.916G>T	ENSP00000333019.5:p.Asp306Tyr
ENST00000553540.5:c.899G>T	ENSP00000450759.1:n.899G>T
ENST00000555486.5:c.852G>T	ENSP00000473778.1:n.852G>T
ENST00000557582.5:n.1708G>T
NM_152328.3:c.787G>T	NP_689541.1:p.Asp263Tyr
NM_199165.1:c.916G>T	NP_954634.1:p.Asp306Tyr
XM_006720026.2:c.790G>T	XP_006720089.1:p.Asp264Tyr
XM_011536412.1:c.919G>T	XP_011534714.1:p.Asp307Tyr
XM_011536413.1:c.604G>T	XP_011534715.1:p.Asp202Tyr
XM_011536414.1:c.601G>T	XP_011534716.1:p.Asp201Tyr
XM_011536415.1:c.172G>T	XP_011534717.1:p.Asp58Tyr
NM_001320424.1:c.172G>T	NP_001307353.1:p.Asp58Tyr
NM_152328.4:c.787G>T	NP_689541.1:p.Asp263Tyr
NM_199165.2:c.916G>T	NP_954634.1:p.Asp306Tyr
XM_006720026.3:c.790G>T	XP_006720089.1:p.Asp264Tyr
XM_011536412.2:c.919G>T	XP_011534714.1:p.Asp307Tyr
XR_001750917.1:n.472C>A
NM_152328.5:c.787G>T MANE Select	NP_689541.1:p.Asp263Tyr