Canonical Allele Identifier: CA7373812

Gene: ADSS1

Linked Data

• dbSNP Id: rs771634834
• ExAC: 14:105207473 G / C
• gnomAD v2: 14-105207473-G-C
• gnomAD v4: 14-104741136-G-C
• MyVariant Identifiers: chr14:g.105207473G>C (hg19) ; chr14:g.104741136G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741136G>C , CM000676.2:g.104741136G>C	GRCh38
NC_000014.8:g.105207473G>C , CM000676.1:g.105207473G>C	GRCh37
NC_000014.7:g.104278518G>C	NCBI36
NG_051175.1:g.21940G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.686G>C	ENSP00000518203.1:p.Arg229Thr
ENST00000330877.7:c.686G>C MANE Select	ENSP00000331260.2:p.Arg229Thr
ENST00000330877.6:c.686G>C	ENSP00000331260.2:p.Arg229Thr
ENST00000332972.9:c.815G>C	ENSP00000333019.5:p.Arg272Thr
ENST00000553540.5:c.798G>C	ENSP00000450759.1:n.798G>C
ENST00000555486.5:c.751G>C	ENSP00000473778.1:n.751G>C
ENST00000557582.5:n.1607G>C
NM_152328.3:c.686G>C	NP_689541.1:p.Arg229Thr
NM_199165.1:c.815G>C	NP_954634.1:p.Arg272Thr
XM_006720026.2:c.689G>C	XP_006720089.1:p.Arg230Thr
XM_011536412.1:c.818G>C	XP_011534714.1:p.Arg273Thr
XM_011536413.1:c.503G>C	XP_011534715.1:p.Arg168Thr
XM_011536414.1:c.500G>C	XP_011534716.1:p.Arg167Thr
XM_011536415.1:c.71G>C	XP_011534717.1:p.Arg24Thr
NM_001320424.1:c.71G>C	NP_001307353.1:p.Arg24Thr
NM_152328.4:c.686G>C	NP_689541.1:p.Arg229Thr
NM_199165.2:c.815G>C	NP_954634.1:p.Arg272Thr
XM_006720026.3:c.689G>C	XP_006720089.1:p.Arg230Thr
XM_011536412.2:c.818G>C	XP_011534714.1:p.Arg273Thr
NM_152328.5:c.686G>C MANE Select	NP_689541.1:p.Arg229Thr