Canonical Allele Identifier: CA391240806

Gene: ADSS1

Linked Data

• gnomAD v4: 14-104741231-G-T
• MyVariant Identifiers: chr14:g.105207568G>T (hg19) ; chr14:g.104741231G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741231G>T , CM000676.2:g.104741231G>T	GRCh38
NC_000014.8:g.105207568G>T , CM000676.1:g.105207568G>T	GRCh37
NC_000014.7:g.104278613G>T	NCBI36
NG_051175.1:g.22035G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.781G>T	ENSP00000518203.1:p.Asp261Tyr
ENST00000330877.7:c.781G>T MANE Select	ENSP00000331260.2:p.Asp261Tyr
ENST00000330877.6:c.781G>T	ENSP00000331260.2:p.Asp261Tyr
ENST00000332972.9:c.910G>T	ENSP00000333019.5:p.Asp304Tyr
ENST00000553540.5:c.893G>T	ENSP00000450759.1:n.893G>T
ENST00000555486.5:c.846G>T	ENSP00000473778.1:n.846G>T
ENST00000557582.5:n.1702G>T
NM_152328.3:c.781G>T	NP_689541.1:p.Asp261Tyr
NM_199165.1:c.910G>T	NP_954634.1:p.Asp304Tyr
XM_006720026.2:c.784G>T	XP_006720089.1:p.Asp262Tyr
XM_011536412.1:c.913G>T	XP_011534714.1:p.Asp305Tyr
XM_011536413.1:c.598G>T	XP_011534715.1:p.Asp200Tyr
XM_011536414.1:c.595G>T	XP_011534716.1:p.Asp199Tyr
XM_011536415.1:c.166G>T	XP_011534717.1:p.Asp56Tyr
NM_001320424.1:c.166G>T	NP_001307353.1:p.Asp56Tyr
NM_152328.4:c.781G>T	NP_689541.1:p.Asp261Tyr
NM_199165.2:c.910G>T	NP_954634.1:p.Asp304Tyr
XM_006720026.3:c.784G>T	XP_006720089.1:p.Asp262Tyr
XM_011536412.2:c.913G>T	XP_011534714.1:p.Asp305Tyr
XR_001750917.1:n.478C>A
NM_152328.5:c.781G>T MANE Select	NP_689541.1:p.Asp261Tyr