Canonical Allele Identifier: CA391240434

Gene: ADSS1

Linked Data

• MyVariant Identifiers: chr14:g.105207480G>A (hg19) ; chr14:g.104741143G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741143G>A , CM000676.2:g.104741143G>A	GRCh38
NC_000014.8:g.105207480G>A , CM000676.1:g.105207480G>A	GRCh37
NC_000014.7:g.104278525G>A	NCBI36
NG_051175.1:g.21947G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.693G>A	ENSP00000518203.1:p.Met231Ile
ENST00000330877.7:c.693G>A MANE Select	ENSP00000331260.2:p.Met231Ile
ENST00000330877.6:c.693G>A	ENSP00000331260.2:p.Met231Ile
ENST00000332972.9:c.822G>A	ENSP00000333019.5:p.Met274Ile
ENST00000553540.5:c.805G>A	ENSP00000450759.1:n.805G>A
ENST00000555486.5:c.758G>A	ENSP00000473778.1:n.758G>A
ENST00000557582.5:n.1614G>A
NM_152328.3:c.693G>A	NP_689541.1:p.Met231Ile
NM_199165.1:c.822G>A	NP_954634.1:p.Met274Ile
XM_006720026.2:c.696G>A	XP_006720089.1:p.Met232Ile
XM_011536412.1:c.825G>A	XP_011534714.1:p.Met275Ile
XM_011536413.1:c.510G>A	XP_011534715.1:p.Met170Ile
XM_011536414.1:c.507G>A	XP_011534716.1:p.Met169Ile
XM_011536415.1:c.78G>A	XP_011534717.1:p.Met26Ile
NM_001320424.1:c.78G>A	NP_001307353.1:p.Met26Ile
NM_152328.4:c.693G>A	NP_689541.1:p.Met231Ile
NM_199165.2:c.822G>A	NP_954634.1:p.Met274Ile
XM_006720026.3:c.696G>A	XP_006720089.1:p.Met232Ile
XM_011536412.2:c.825G>A	XP_011534714.1:p.Met275Ile
NM_152328.5:c.693G>A MANE Select	NP_689541.1:p.Met231Ile