Canonical Allele Identifier: CA7373846

Gene: ADSS1

Linked Data

• dbSNP Id: rs757091715
• ExAC: 14:105207570 C / A
• gnomAD v2: 14-105207570-C-A
• gnomAD v4: 14-104741233-C-A
• MyVariant Identifiers: chr14:g.105207570C>A (hg19) ; chr14:g.104741233C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741233C>A , CM000676.2:g.104741233C>A	GRCh38
NC_000014.8:g.105207570C>A , CM000676.1:g.105207570C>A	GRCh37
NC_000014.7:g.104278615C>A	NCBI36
NG_051175.1:g.22037C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.783C>A	ENSP00000518203.1:p.Asp261Glu
ENST00000330877.7:c.783C>A MANE Select	ENSP00000331260.2:p.Asp261Glu
ENST00000330877.6:c.783C>A	ENSP00000331260.2:p.Asp261Glu
ENST00000332972.9:c.912C>A	ENSP00000333019.5:p.Asp304Glu
ENST00000553540.5:c.895C>A	ENSP00000450759.1:n.895C>A
ENST00000555486.5:c.848C>A	ENSP00000473778.1:n.848C>A
ENST00000557582.5:n.1704C>A
NM_152328.3:c.783C>A	NP_689541.1:p.Asp261Glu
NM_199165.1:c.912C>A	NP_954634.1:p.Asp304Glu
XM_006720026.2:c.786C>A	XP_006720089.1:p.Asp262Glu
XM_011536412.1:c.915C>A	XP_011534714.1:p.Asp305Glu
XM_011536413.1:c.600C>A	XP_011534715.1:p.Asp200Glu
XM_011536414.1:c.597C>A	XP_011534716.1:p.Asp199Glu
XM_011536415.1:c.168C>A	XP_011534717.1:p.Asp56Glu
NM_001320424.1:c.168C>A	NP_001307353.1:p.Asp56Glu
NM_152328.4:c.783C>A	NP_689541.1:p.Asp261Glu
NM_199165.2:c.912C>A	NP_954634.1:p.Asp304Glu
XM_006720026.3:c.786C>A	XP_006720089.1:p.Asp262Glu
XM_011536412.2:c.915C>A	XP_011534714.1:p.Asp305Glu
XR_001750917.1:n.476G>T
NM_152328.5:c.783C>A MANE Select	NP_689541.1:p.Asp261Glu