Canonical Allele Identifier: CA391240778

Gene: ADSS1

Linked Data

• dbSNP Id: rs1287020035
• gnomAD v2: 14-105207560-C-T
• gnomAD v4: 14-104741223-C-T
• MyVariant Identifiers: chr14:g.105207560C>T (hg19) ; chr14:g.104741223C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741223C>T , CM000676.2:g.104741223C>T	GRCh38
NC_000014.8:g.105207560C>T , CM000676.1:g.105207560C>T	GRCh37
NC_000014.7:g.104278605C>T	NCBI36
NG_051175.1:g.22027C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710323.1:c.773C>T	ENSP00000518203.1:p.Ala258Val
ENST00000330877.7:c.773C>T MANE Select	ENSP00000331260.2:p.Ala258Val
ENST00000330877.6:c.773C>T	ENSP00000331260.2:p.Ala258Val
ENST00000332972.9:c.902C>T	ENSP00000333019.5:p.Ala301Val
ENST00000553540.5:c.885C>T	ENSP00000450759.1:n.885C>T
ENST00000555486.5:c.838C>T	ENSP00000473778.1:n.838C>T
ENST00000557582.5:n.1694C>T
NM_152328.3:c.773C>T	NP_689541.1:p.Ala258Val
NM_199165.1:c.902C>T	NP_954634.1:p.Ala301Val
XM_006720026.2:c.776C>T	XP_006720089.1:p.Ala259Val
XM_011536412.1:c.905C>T	XP_011534714.1:p.Ala302Val
XM_011536413.1:c.590C>T	XP_011534715.1:p.Ala197Val
XM_011536414.1:c.587C>T	XP_011534716.1:p.Ala196Val
XM_011536415.1:c.158C>T	XP_011534717.1:p.Ala53Val
NM_001320424.1:c.158C>T	NP_001307353.1:p.Ala53Val
NM_152328.4:c.773C>T	NP_689541.1:p.Ala258Val
NM_199165.2:c.902C>T	NP_954634.1:p.Ala301Val
XM_006720026.3:c.776C>T	XP_006720089.1:p.Ala259Val
XM_011536412.2:c.905C>T	XP_011534714.1:p.Ala302Val
XR_001750917.1:n.486G>A
NM_152328.5:c.773C>T MANE Select	NP_689541.1:p.Ala258Val