Canonical Allele Identifier: CA7373808

Gene: ADSS1

Linked Data

• ClinVar Variation Id: 1681955
• ClinVar RCV Id: RCV002239748
• dbSNP Id: rs746042337
• ExAC: 14:105207466 C / T
• gnomAD v2: 14-105207466-C-T
• gnomAD v3: 14-104741129-C-T
• gnomAD v4: 14-104741129-C-T
• COSMIC: COSM5623813
• MyVariant Identifiers: chr14:g.105207466C>T (hg19) ; chr14:g.104741129C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741129C>T , CM000676.2:g.104741129C>T	GRCh38
NC_000014.8:g.105207466C>T , CM000676.1:g.105207466C>T	GRCh37
NC_000014.7:g.104278511C>T	NCBI36
NG_051175.1:g.21933C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710323.1:c.679C>T	ENSP00000518203.1:p.Arg227Trp
ENST00000330877.7:c.679C>T MANE Select	ENSP00000331260.2:p.Arg227Trp
ENST00000330877.6:c.679C>T	ENSP00000331260.2:p.Arg227Trp
ENST00000332972.9:c.808C>T	ENSP00000333019.5:p.Arg270Trp
ENST00000553540.5:c.791C>T	ENSP00000450759.1:n.791C>T
ENST00000555486.5:c.744C>T	ENSP00000473778.1:n.744C>T
ENST00000557582.5:n.1600C>T
NM_152328.3:c.679C>T	NP_689541.1:p.Arg227Trp
NM_199165.1:c.808C>T	NP_954634.1:p.Arg270Trp
XM_006720026.2:c.682C>T	XP_006720089.1:p.Arg228Trp
XM_011536412.1:c.811C>T	XP_011534714.1:p.Arg271Trp
XM_011536413.1:c.496C>T	XP_011534715.1:p.Arg166Trp
XM_011536414.1:c.493C>T	XP_011534716.1:p.Arg165Trp
XM_011536415.1:c.64C>T	XP_011534717.1:p.Arg22Trp
NM_001320424.1:c.64C>T	NP_001307353.1:p.Arg22Trp
NM_152328.4:c.679C>T	NP_689541.1:p.Arg227Trp
NM_199165.2:c.808C>T	NP_954634.1:p.Arg270Trp
XM_006720026.3:c.682C>T	XP_006720089.1:p.Arg228Trp
XM_011536412.2:c.811C>T	XP_011534714.1:p.Arg271Trp
NM_152328.5:c.679C>T MANE Select	NP_689541.1:p.Arg227Trp