Canonical Allele Identifier: CA7373811

Gene: ADSS1

Linked Data

• ClinVar Variation Id: 1681956
• ClinVar RCV Id: RCV002239749 ; RCV003138111
• dbSNP Id: rs141096426
• ExAC: 14:105207470 T / C
• gnomAD v2: 14-105207470-T-C
• gnomAD v3: 14-104741133-T-C
• gnomAD v4: 14-104741133-T-C
• MyVariant Identifiers: chr14:g.105207470T>C (hg19) ; chr14:g.104741133T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741133T>C , CM000676.2:g.104741133T>C	GRCh38
NC_000014.8:g.105207470T>C , CM000676.1:g.105207470T>C	GRCh37
NC_000014.7:g.104278515T>C	NCBI36
NG_051175.1:g.21937T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.683T>C	ENSP00000518203.1:p.Ile228Thr
ENST00000330877.7:c.683T>C MANE Select	ENSP00000331260.2:p.Ile228Thr
ENST00000330877.6:c.683T>C	ENSP00000331260.2:p.Ile228Thr
ENST00000332972.9:c.812T>C	ENSP00000333019.5:p.Ile271Thr
ENST00000553540.5:c.795T>C	ENSP00000450759.1:n.795T>C
ENST00000555486.5:c.748T>C	ENSP00000473778.1:n.748T>C
ENST00000557582.5:n.1604T>C
NM_152328.3:c.683T>C	NP_689541.1:p.Ile228Thr
NM_199165.1:c.812T>C	NP_954634.1:p.Ile271Thr
XM_006720026.2:c.686T>C	XP_006720089.1:p.Ile229Thr
XM_011536412.1:c.815T>C	XP_011534714.1:p.Ile272Thr
XM_011536413.1:c.500T>C	XP_011534715.1:p.Ile167Thr
XM_011536414.1:c.497T>C	XP_011534716.1:p.Ile166Thr
XM_011536415.1:c.68T>C	XP_011534717.1:p.Ile23Thr
NM_001320424.1:c.68T>C	NP_001307353.1:p.Ile23Thr
NM_152328.4:c.683T>C	NP_689541.1:p.Ile228Thr
NM_199165.2:c.812T>C	NP_954634.1:p.Ile271Thr
XM_006720026.3:c.686T>C	XP_006720089.1:p.Ile229Thr
XM_011536412.2:c.815T>C	XP_011534714.1:p.Ile272Thr
NM_152328.5:c.683T>C MANE Select	NP_689541.1:p.Ile228Thr