Canonical Allele Identifier: CA391240345

Gene: ADSS1

Linked Data

• gnomAD v4: 14-104741124-C-A
• MyVariant Identifiers: chr14:g.105207461C>A (hg19) ; chr14:g.104741124C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741124C>A , CM000676.2:g.104741124C>A	GRCh38
NC_000014.8:g.105207461C>A , CM000676.1:g.105207461C>A	GRCh37
NC_000014.7:g.104278506C>A	NCBI36
NG_051175.1:g.21928C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710323.1:c.674C>A	ENSP00000518203.1:p.Ala225Asp
ENST00000330877.7:c.674C>A MANE Select	ENSP00000331260.2:p.Ala225Asp
ENST00000330877.6:c.674C>A	ENSP00000331260.2:p.Ala225Asp
ENST00000332972.9:c.803C>A	ENSP00000333019.5:p.Ala268Asp
ENST00000553540.5:c.786C>A	ENSP00000450759.1:n.786C>A
ENST00000555486.5:c.739C>A	ENSP00000473778.1:n.739C>A
ENST00000557582.5:n.1595C>A
NM_152328.3:c.674C>A	NP_689541.1:p.Ala225Asp
NM_199165.1:c.803C>A	NP_954634.1:p.Ala268Asp
XM_006720026.2:c.677C>A	XP_006720089.1:p.Ala226Asp
XM_011536412.1:c.806C>A	XP_011534714.1:p.Ala269Asp
XM_011536413.1:c.491C>A	XP_011534715.1:p.Ala164Asp
XM_011536414.1:c.488C>A	XP_011534716.1:p.Ala163Asp
XM_011536415.1:c.59C>A	XP_011534717.1:p.Ala20Asp
NM_001320424.1:c.59C>A	NP_001307353.1:p.Ala20Asp
NM_152328.4:c.674C>A	NP_689541.1:p.Ala225Asp
NM_199165.2:c.803C>A	NP_954634.1:p.Ala268Asp
XM_006720026.3:c.677C>A	XP_006720089.1:p.Ala226Asp
XM_011536412.2:c.806C>A	XP_011534714.1:p.Ala269Asp
NM_152328.5:c.674C>A MANE Select	NP_689541.1:p.Ala225Asp