Canonical Allele Identifier: CA391240429

Gene: ADSS1

Linked Data

• MyVariant Identifiers: chr14:g.105207479T>A (hg19) ; chr14:g.104741142T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741142T>A , CM000676.2:g.104741142T>A	GRCh38
NC_000014.8:g.105207479T>A , CM000676.1:g.105207479T>A	GRCh37
NC_000014.7:g.104278524T>A	NCBI36
NG_051175.1:g.21946T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.692T>A	ENSP00000518203.1:p.Met231Lys
ENST00000330877.7:c.692T>A MANE Select	ENSP00000331260.2:p.Met231Lys
ENST00000330877.6:c.692T>A	ENSP00000331260.2:p.Met231Lys
ENST00000332972.9:c.821T>A	ENSP00000333019.5:p.Met274Lys
ENST00000553540.5:c.804T>A	ENSP00000450759.1:n.804T>A
ENST00000555486.5:c.757T>A	ENSP00000473778.1:n.757T>A
ENST00000557582.5:n.1613T>A
NM_152328.3:c.692T>A	NP_689541.1:p.Met231Lys
NM_199165.1:c.821T>A	NP_954634.1:p.Met274Lys
XM_006720026.2:c.695T>A	XP_006720089.1:p.Met232Lys
XM_011536412.1:c.824T>A	XP_011534714.1:p.Met275Lys
XM_011536413.1:c.509T>A	XP_011534715.1:p.Met170Lys
XM_011536414.1:c.506T>A	XP_011534716.1:p.Met169Lys
XM_011536415.1:c.77T>A	XP_011534717.1:p.Met26Lys
NM_001320424.1:c.77T>A	NP_001307353.1:p.Met26Lys
NM_152328.4:c.692T>A	NP_689541.1:p.Met231Lys
NM_199165.2:c.821T>A	NP_954634.1:p.Met274Lys
XM_006720026.3:c.695T>A	XP_006720089.1:p.Met232Lys
XM_011536412.2:c.824T>A	XP_011534714.1:p.Met275Lys
NM_152328.5:c.692T>A MANE Select	NP_689541.1:p.Met231Lys