Canonical Allele Identifier: CA391240342

Gene: ADSS1

Linked Data

• MyVariant Identifiers: chr14:g.105207460G>A (hg19) ; chr14:g.104741123G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741123G>A , CM000676.2:g.104741123G>A	GRCh38
NC_000014.8:g.105207460G>A , CM000676.1:g.105207460G>A	GRCh37
NC_000014.7:g.104278505G>A	NCBI36
NG_051175.1:g.21927G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710323.1:c.673G>A	ENSP00000518203.1:p.Ala225Thr
ENST00000330877.7:c.673G>A MANE Select	ENSP00000331260.2:p.Ala225Thr
ENST00000330877.6:c.673G>A	ENSP00000331260.2:p.Ala225Thr
ENST00000332972.9:c.802G>A	ENSP00000333019.5:p.Ala268Thr
ENST00000553540.5:c.785G>A	ENSP00000450759.1:n.785G>A
ENST00000555486.5:c.738G>A	ENSP00000473778.1:n.738G>A
ENST00000557582.5:n.1594G>A
NM_152328.3:c.673G>A	NP_689541.1:p.Ala225Thr
NM_199165.1:c.802G>A	NP_954634.1:p.Ala268Thr
XM_006720026.2:c.676G>A	XP_006720089.1:p.Ala226Thr
XM_011536412.1:c.805G>A	XP_011534714.1:p.Ala269Thr
XM_011536413.1:c.490G>A	XP_011534715.1:p.Ala164Thr
XM_011536414.1:c.487G>A	XP_011534716.1:p.Ala163Thr
XM_011536415.1:c.58G>A	XP_011534717.1:p.Ala20Thr
NM_001320424.1:c.58G>A	NP_001307353.1:p.Ala20Thr
NM_152328.4:c.673G>A	NP_689541.1:p.Ala225Thr
NM_199165.2:c.802G>A	NP_954634.1:p.Ala268Thr
XM_006720026.3:c.676G>A	XP_006720089.1:p.Ala226Thr
XM_011536412.2:c.805G>A	XP_011534714.1:p.Ala269Thr
NM_152328.5:c.673G>A MANE Select	NP_689541.1:p.Ala225Thr