Canonical Allele Identifier: CA488457373

Gene: ADSS1

Linked Data

• gnomAD v4: 14-104741215-C-T
• MyVariant Identifiers: chr14:g.105207552C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741215C>T , CM000676.2:g.104741215C>T	GRCh38
NC_000014.8:g.105207552C>T , CM000676.1:g.105207552C>T	GRCh37
NC_000014.7:g.104278597C>T	NCBI36
NG_051175.1:g.22019C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710323.1:c.765C>T	ENSP00000518203.1:p.Ala255=
ENST00000330877.7:c.765C>T MANE Select	ENSP00000331260.2:p.Ala255=
ENST00000330877.6:c.765C>T	ENSP00000331260.2:p.Ala255=
ENST00000332972.9:c.894C>T	ENSP00000333019.5:p.Ala298=
ENST00000553540.5:c.877C>T	ENSP00000450759.1:n.877C>T
ENST00000555486.5:c.830C>T	ENSP00000473778.1:n.830C>T
ENST00000557582.5:n.1686C>T
NM_152328.3:c.765C>T	NP_689541.1:p.Ala255=
NM_199165.1:c.894C>T	NP_954634.1:p.Ala298=
XM_006720026.2:c.768C>T	XP_006720089.1:p.Ala256=
XM_011536412.1:c.897C>T	XP_011534714.1:p.Ala299=
XM_011536413.1:c.582C>T	XP_011534715.1:p.Ala194=
XM_011536414.1:c.579C>T	XP_011534716.1:p.Ala193=
XM_011536415.1:c.150C>T	XP_011534717.1:p.Ala50=
NM_001320424.1:c.150C>T	NP_001307353.1:p.Ala50=
NM_152328.4:c.765C>T	NP_689541.1:p.Ala255=
NM_199165.2:c.894C>T	NP_954634.1:p.Ala298=
XM_006720026.3:c.768C>T	XP_006720089.1:p.Ala256=
XM_011536412.2:c.897C>T	XP_011534714.1:p.Ala299=
XR_001750917.1:n.494G>A
NM_152328.5:c.765C>T MANE Select	NP_689541.1:p.Ala255=