Canonical Allele Identifier: CA488457386

Gene: ADSS1

Linked Data

• gnomAD v4: 14-104741236-T-C
• MyVariant Identifiers: chr14:g.105207573T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741236T>C , CM000676.2:g.104741236T>C	GRCh38
NC_000014.8:g.105207573T>C , CM000676.1:g.105207573T>C	GRCh37
NC_000014.7:g.104278618T>C	NCBI36
NG_051175.1:g.22040T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.786T>C	ENSP00000518203.1:p.Ile262=
ENST00000330877.7:c.786T>C MANE Select	ENSP00000331260.2:p.Ile262=
ENST00000330877.6:c.786T>C	ENSP00000331260.2:p.Ile262=
ENST00000332972.9:c.915T>C	ENSP00000333019.5:p.Ile305=
ENST00000553540.5:c.898T>C	ENSP00000450759.1:n.898T>C
ENST00000555486.5:c.851T>C	ENSP00000473778.1:n.851T>C
ENST00000557582.5:n.1707T>C
NM_152328.3:c.786T>C	NP_689541.1:p.Ile262=
NM_199165.1:c.915T>C	NP_954634.1:p.Ile305=
XM_006720026.2:c.789T>C	XP_006720089.1:p.Ile263=
XM_011536412.1:c.918T>C	XP_011534714.1:p.Ile306=
XM_011536413.1:c.603T>C	XP_011534715.1:p.Ile201=
XM_011536414.1:c.600T>C	XP_011534716.1:p.Ile200=
XM_011536415.1:c.171T>C	XP_011534717.1:p.Ile57=
NM_001320424.1:c.171T>C	NP_001307353.1:p.Ile57=
NM_152328.4:c.786T>C	NP_689541.1:p.Ile262=
NM_199165.2:c.915T>C	NP_954634.1:p.Ile305=
XM_006720026.3:c.789T>C	XP_006720089.1:p.Ile263=
XM_011536412.2:c.918T>C	XP_011534714.1:p.Ile306=
XR_001750917.1:n.473A>G
NM_152328.5:c.786T>C MANE Select	NP_689541.1:p.Ile262=