Canonical Allele Identifier: CA488457333

Gene: ADSS1

Linked Data

• dbSNP Id: rs1226217628
• gnomAD v2: 14-105207492-T-G
• gnomAD v4: 14-104741155-T-G
• MyVariant Identifiers: chr14:g.105207492T>G (hg19) ; chr14:g.104741155T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741155T>G , CM000676.2:g.104741155T>G	GRCh38
NC_000014.8:g.105207492T>G , CM000676.1:g.105207492T>G	GRCh37
NC_000014.7:g.104278537T>G	NCBI36
NG_051175.1:g.21959T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710323.1:c.705T>G	ENSP00000518203.1:p.Gly235=
ENST00000330877.7:c.705T>G MANE Select	ENSP00000331260.2:p.Gly235=
ENST00000330877.6:c.705T>G	ENSP00000331260.2:p.Gly235=
ENST00000332972.9:c.834T>G	ENSP00000333019.5:p.Gly278=
ENST00000553540.5:c.817T>G	ENSP00000450759.1:n.817T>G
ENST00000555486.5:c.770T>G	ENSP00000473778.1:n.770T>G
ENST00000557582.5:n.1626T>G
NM_152328.3:c.705T>G	NP_689541.1:p.Gly235=
NM_199165.1:c.834T>G	NP_954634.1:p.Gly278=
XM_006720026.2:c.708T>G	XP_006720089.1:p.Gly236=
XM_011536412.1:c.837T>G	XP_011534714.1:p.Gly279=
XM_011536413.1:c.522T>G	XP_011534715.1:p.Gly174=
XM_011536414.1:c.519T>G	XP_011534716.1:p.Gly173=
XM_011536415.1:c.90T>G	XP_011534717.1:p.Gly30=
NM_001320424.1:c.90T>G	NP_001307353.1:p.Gly30=
NM_152328.4:c.705T>G	NP_689541.1:p.Gly235=
NM_199165.2:c.834T>G	NP_954634.1:p.Gly278=
XM_006720026.3:c.708T>G	XP_006720089.1:p.Gly236=
XM_011536412.2:c.837T>G	XP_011534714.1:p.Gly279=
XR_001750917.1:n.554A>C
NM_152328.5:c.705T>G MANE Select	NP_689541.1:p.Gly235=