Canonical Allele Identifier: CA7373849

Gene: ADSS1

Linked Data

• ClinVar Variation Id: 1895667
• ClinVar RCV Id: RCV002574802
• dbSNP Id: rs145665881
• ExAC: 14:105207580 G / T
• gnomAD v2: 14-105207580-G-T
• gnomAD v4: 14-104741243-G-T
• MyVariant Identifiers: chr14:g.105207580G>T (hg19) ; chr14:g.104741243G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741243G>T , CM000676.2:g.104741243G>T	GRCh38
NC_000014.8:g.105207580G>T , CM000676.1:g.105207580G>T	GRCh37
NC_000014.7:g.104278625G>T	NCBI36
NG_051175.1:g.22047G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.793G>T	ENSP00000518203.1:p.Gly265Trp
ENST00000330877.7:c.793G>T MANE Select	ENSP00000331260.2:p.Gly265Trp
ENST00000330877.6:c.793G>T	ENSP00000331260.2:p.Gly265Trp
ENST00000332972.9:c.922G>T	ENSP00000333019.5:p.Gly308Trp
ENST00000553540.5:c.905G>T	ENSP00000450759.1:n.905G>T
ENST00000555486.5:c.858G>T	ENSP00000473778.1:n.858G>T
ENST00000557582.5:n.1714G>T
NM_152328.3:c.793G>T	NP_689541.1:p.Gly265Trp
NM_199165.1:c.922G>T	NP_954634.1:p.Gly308Trp
XM_006720026.2:c.796G>T	XP_006720089.1:p.Gly266Trp
XM_011536412.1:c.925G>T	XP_011534714.1:p.Gly309Trp
XM_011536413.1:c.610G>T	XP_011534715.1:p.Gly204Trp
XM_011536414.1:c.607G>T	XP_011534716.1:p.Gly203Trp
XM_011536415.1:c.178G>T	XP_011534717.1:p.Gly60Trp
NM_001320424.1:c.178G>T	NP_001307353.1:p.Gly60Trp
NM_152328.4:c.793G>T	NP_689541.1:p.Gly265Trp
NM_199165.2:c.922G>T	NP_954634.1:p.Gly308Trp
XM_006720026.3:c.796G>T	XP_006720089.1:p.Gly266Trp
XM_011536412.2:c.925G>T	XP_011534714.1:p.Gly309Trp
XR_001750917.1:n.466C>A
NM_152328.5:c.793G>T MANE Select	NP_689541.1:p.Gly265Trp