Canonical Allele Identifier: CA391240426
Gene: ADSS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.104741141A>C , CM000676.2:g.104741141A>C GRCh38
NC_000014.8:g.105207478A>C , CM000676.1:g.105207478A>C GRCh37
NC_000014.7:g.104278523A>C NCBI36
NG_051175.1:g.21945A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000710323.1:c.691A>C ENSP00000518203.1:p.Met231Leu
ENST00000330877.7:c.691A>C MANE Select ENSP00000331260.2:p.Met231Leu
ENST00000330877.6:c.691A>C ENSP00000331260.2:p.Met231Leu
ENST00000332972.9:c.820A>C ENSP00000333019.5:p.Met274Leu
ENST00000553540.5:c.803A>C ENSP00000450759.1:n.803A>C
ENST00000555486.5:c.756A>C ENSP00000473778.1:n.756A>C
ENST00000557582.5:n.1612A>C
NM_152328.3:c.691A>C NP_689541.1:p.Met231Leu
NM_199165.1:c.820A>C NP_954634.1:p.Met274Leu
XM_006720026.2:c.694A>C XP_006720089.1:p.Met232Leu
XM_011536412.1:c.823A>C XP_011534714.1:p.Met275Leu
XM_011536413.1:c.508A>C XP_011534715.1:p.Met170Leu
XM_011536414.1:c.505A>C XP_011534716.1:p.Met169Leu
XM_011536415.1:c.76A>C XP_011534717.1:p.Met26Leu
NM_001320424.1:c.76A>C NP_001307353.1:p.Met26Leu
NM_152328.4:c.691A>C NP_689541.1:p.Met231Leu
NM_199165.2:c.820A>C NP_954634.1:p.Met274Leu
XM_006720026.3:c.694A>C XP_006720089.1:p.Met232Leu
XM_011536412.2:c.823A>C XP_011534714.1:p.Met275Leu
NM_152328.5:c.691A>C MANE Select NP_689541.1:p.Met231Leu