Canonical Allele Identifier: CA267336767

Gene: ADSS1

Linked Data

• dbSNP Id: rs1000203662
• gnomAD v4: 14-104741144-G-A
• MyVariant Identifiers: chr14:g.105207481G>A (hg19) ; chr14:g.104741144G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741144G>A , CM000676.2:g.104741144G>A	GRCh38
NC_000014.8:g.105207481G>A , CM000676.1:g.105207481G>A	GRCh37
NC_000014.7:g.104278526G>A	NCBI36
NG_051175.1:g.21948G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.694G>A	ENSP00000518203.1:p.Val232Ile
ENST00000330877.7:c.694G>A MANE Select	ENSP00000331260.2:p.Val232Ile
ENST00000330877.6:c.694G>A	ENSP00000331260.2:p.Val232Ile
ENST00000332972.9:c.823G>A	ENSP00000333019.5:p.Val275Ile
ENST00000553540.5:c.806G>A	ENSP00000450759.1:n.806G>A
ENST00000555486.5:c.759G>A	ENSP00000473778.1:n.759G>A
ENST00000557582.5:n.1615G>A
NM_152328.3:c.694G>A	NP_689541.1:p.Val232Ile
NM_199165.1:c.823G>A	NP_954634.1:p.Val275Ile
XM_006720026.2:c.697G>A	XP_006720089.1:p.Val233Ile
XM_011536412.1:c.826G>A	XP_011534714.1:p.Val276Ile
XM_011536413.1:c.511G>A	XP_011534715.1:p.Val171Ile
XM_011536414.1:c.508G>A	XP_011534716.1:p.Val170Ile
XM_011536415.1:c.79G>A	XP_011534717.1:p.Val27Ile
NM_001320424.1:c.79G>A	NP_001307353.1:p.Val27Ile
NM_152328.4:c.694G>A	NP_689541.1:p.Val232Ile
NM_199165.2:c.823G>A	NP_954634.1:p.Val275Ile
XM_006720026.3:c.697G>A	XP_006720089.1:p.Val233Ile
XM_011536412.2:c.826G>A	XP_011534714.1:p.Val276Ile
XR_001750917.1:n.565C>T
NM_152328.5:c.694G>A MANE Select	NP_689541.1:p.Val232Ile