Canonical Allele Identifier: CA391240853

Gene: ADSS1

Linked Data

• dbSNP Id: rs1304630599
• gnomAD v3: 14-104741241-T-A
• gnomAD v4: 14-104741241-T-A
• MyVariant Identifiers: chr14:g.105207578T>A (hg19) ; chr14:g.104741241T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741241T>A , CM000676.2:g.104741241T>A	GRCh38
NC_000014.8:g.105207578T>A , CM000676.1:g.105207578T>A	GRCh37
NC_000014.7:g.104278623T>A	NCBI36
NG_051175.1:g.22045T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.791T>A	ENSP00000518203.1:p.Phe264Tyr
ENST00000330877.7:c.791T>A MANE Select	ENSP00000331260.2:p.Phe264Tyr
ENST00000330877.6:c.791T>A	ENSP00000331260.2:p.Phe264Tyr
ENST00000332972.9:c.920T>A	ENSP00000333019.5:p.Phe307Tyr
ENST00000553540.5:c.903T>A	ENSP00000450759.1:n.903T>A
ENST00000555486.5:c.856T>A	ENSP00000473778.1:n.856T>A
ENST00000557582.5:n.1712T>A
NM_152328.3:c.791T>A	NP_689541.1:p.Phe264Tyr
NM_199165.1:c.920T>A	NP_954634.1:p.Phe307Tyr
XM_006720026.2:c.794T>A	XP_006720089.1:p.Phe265Tyr
XM_011536412.1:c.923T>A	XP_011534714.1:p.Phe308Tyr
XM_011536413.1:c.608T>A	XP_011534715.1:p.Phe203Tyr
XM_011536414.1:c.605T>A	XP_011534716.1:p.Phe202Tyr
XM_011536415.1:c.176T>A	XP_011534717.1:p.Phe59Tyr
NM_001320424.1:c.176T>A	NP_001307353.1:p.Phe59Tyr
NM_152328.4:c.791T>A	NP_689541.1:p.Phe264Tyr
NM_199165.2:c.920T>A	NP_954634.1:p.Phe307Tyr
XM_006720026.3:c.794T>A	XP_006720089.1:p.Phe265Tyr
XM_011536412.2:c.923T>A	XP_011534714.1:p.Phe308Tyr
XR_001750917.1:n.468A>T
NM_152328.5:c.791T>A MANE Select	NP_689541.1:p.Phe264Tyr