Canonical Allele Identifier: CA391240421

Gene: ADSS1

Linked Data

• dbSNP Id: rs904498964
• gnomAD v4: 14-104741139-C-A
• MyVariant Identifiers: chr14:g.105207476C>A (hg19) ; chr14:g.104741139C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741139C>A , CM000676.2:g.104741139C>A	GRCh38
NC_000014.8:g.105207476C>A , CM000676.1:g.105207476C>A	GRCh37
NC_000014.7:g.104278521C>A	NCBI36
NG_051175.1:g.21943C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.689C>A	ENSP00000518203.1:p.Pro230His
ENST00000330877.7:c.689C>A MANE Select	ENSP00000331260.2:p.Pro230His
ENST00000330877.6:c.689C>A	ENSP00000331260.2:p.Pro230His
ENST00000332972.9:c.818C>A	ENSP00000333019.5:p.Pro273His
ENST00000553540.5:c.801C>A	ENSP00000450759.1:n.801C>A
ENST00000555486.5:c.754C>A	ENSP00000473778.1:n.754C>A
ENST00000557582.5:n.1610C>A
NM_152328.3:c.689C>A	NP_689541.1:p.Pro230His
NM_199165.1:c.818C>A	NP_954634.1:p.Pro273His
XM_006720026.2:c.692C>A	XP_006720089.1:p.Pro231His
XM_011536412.1:c.821C>A	XP_011534714.1:p.Pro274His
XM_011536413.1:c.506C>A	XP_011534715.1:p.Pro169His
XM_011536414.1:c.503C>A	XP_011534716.1:p.Pro168His
XM_011536415.1:c.74C>A	XP_011534717.1:p.Pro25His
NM_001320424.1:c.74C>A	NP_001307353.1:p.Pro25His
NM_152328.4:c.689C>A	NP_689541.1:p.Pro230His
NM_199165.2:c.818C>A	NP_954634.1:p.Pro273His
XM_006720026.3:c.692C>A	XP_006720089.1:p.Pro231His
XM_011536412.2:c.821C>A	XP_011534714.1:p.Pro274His
NM_152328.5:c.689C>A MANE Select	NP_689541.1:p.Pro230His