Canonical Allele Identifier: CA7373847

Gene: ADSS1

Linked Data

• ClinVar Variation Id: 2164859
• ClinVar RCV Id: RCV003082318
• dbSNP Id: rs530966674
• ExAC: 14:105207579 C / T
• gnomAD v2: 14-105207579-C-T
• gnomAD v3: 14-104741242-C-T
• gnomAD v4: 14-104741242-C-T
• COSMIC: COSM1368546
• MyVariant Identifiers: chr14:g.105207579C>T (hg19) ; chr14:g.104741242C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741242C>T , CM000676.2:g.104741242C>T	GRCh38
NC_000014.8:g.105207579C>T , CM000676.1:g.105207579C>T	GRCh37
NC_000014.7:g.104278624C>T	NCBI36
NG_051175.1:g.22046C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.792C>T	ENSP00000518203.1:p.Phe264=
ENST00000330877.7:c.792C>T MANE Select	ENSP00000331260.2:p.Phe264=
ENST00000330877.6:c.792C>T	ENSP00000331260.2:p.Phe264=
ENST00000332972.9:c.921C>T	ENSP00000333019.5:p.Phe307=
ENST00000553540.5:c.904C>T	ENSP00000450759.1:n.904C>T
ENST00000555486.5:c.857C>T	ENSP00000473778.1:n.857C>T
ENST00000557582.5:n.1713C>T
NM_152328.3:c.792C>T	NP_689541.1:p.Phe264=
NM_199165.1:c.921C>T	NP_954634.1:p.Phe307=
XM_006720026.2:c.795C>T	XP_006720089.1:p.Phe265=
XM_011536412.1:c.924C>T	XP_011534714.1:p.Phe308=
XM_011536413.1:c.609C>T	XP_011534715.1:p.Phe203=
XM_011536414.1:c.606C>T	XP_011534716.1:p.Phe202=
XM_011536415.1:c.177C>T	XP_011534717.1:p.Phe59=
NM_001320424.1:c.177C>T	NP_001307353.1:p.Phe59=
NM_152328.4:c.792C>T	NP_689541.1:p.Phe264=
NM_199165.2:c.921C>T	NP_954634.1:p.Phe307=
XM_006720026.3:c.795C>T	XP_006720089.1:p.Phe265=
XM_011536412.2:c.924C>T	XP_011534714.1:p.Phe308=
XR_001750917.1:n.467G>A
NM_152328.5:c.792C>T MANE Select	NP_689541.1:p.Phe264=