Canonical Allele Identifier: CA7373845

Gene: ADSS1

Linked Data

• ClinVar Variation Id: 2974260
• ClinVar RCV Id: RCV003835898
• dbSNP Id: rs751342846
• ExAC: 14:105207569 A / C
• gnomAD v2: 14-105207569-A-C
• gnomAD v4: 14-104741232-A-C
• MyVariant Identifiers: chr14:g.105207569A>C (hg19) ; chr14:g.104741232A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741232A>C , CM000676.2:g.104741232A>C	GRCh38
NC_000014.8:g.105207569A>C , CM000676.1:g.105207569A>C	GRCh37
NC_000014.7:g.104278614A>C	NCBI36
NG_051175.1:g.22036A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.782A>C	ENSP00000518203.1:p.Asp261Ala
ENST00000330877.7:c.782A>C MANE Select	ENSP00000331260.2:p.Asp261Ala
ENST00000330877.6:c.782A>C	ENSP00000331260.2:p.Asp261Ala
ENST00000332972.9:c.911A>C	ENSP00000333019.5:p.Asp304Ala
ENST00000553540.5:c.894A>C	ENSP00000450759.1:n.894A>C
ENST00000555486.5:c.847A>C	ENSP00000473778.1:n.847A>C
ENST00000557582.5:n.1703A>C
NM_152328.3:c.782A>C	NP_689541.1:p.Asp261Ala
NM_199165.1:c.911A>C	NP_954634.1:p.Asp304Ala
XM_006720026.2:c.785A>C	XP_006720089.1:p.Asp262Ala
XM_011536412.1:c.914A>C	XP_011534714.1:p.Asp305Ala
XM_011536413.1:c.599A>C	XP_011534715.1:p.Asp200Ala
XM_011536414.1:c.596A>C	XP_011534716.1:p.Asp199Ala
XM_011536415.1:c.167A>C	XP_011534717.1:p.Asp56Ala
NM_001320424.1:c.167A>C	NP_001307353.1:p.Asp56Ala
NM_152328.4:c.782A>C	NP_689541.1:p.Asp261Ala
NM_199165.2:c.911A>C	NP_954634.1:p.Asp304Ala
XM_006720026.3:c.785A>C	XP_006720089.1:p.Asp262Ala
XM_011536412.2:c.914A>C	XP_011534714.1:p.Asp305Ala
XR_001750917.1:n.477T>G
NM_152328.5:c.782A>C MANE Select	NP_689541.1:p.Asp261Ala