Canonical Allele Identifier: CA391240389

Gene: ADSS1

Linked Data

• MyVariant Identifiers: chr14:g.105207469A>G (hg19) ; chr14:g.104741132A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741132A>G , CM000676.2:g.104741132A>G	GRCh38
NC_000014.8:g.105207469A>G , CM000676.1:g.105207469A>G	GRCh37
NC_000014.7:g.104278514A>G	NCBI36
NG_051175.1:g.21936A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.682A>G	ENSP00000518203.1:p.Ile228Val
ENST00000330877.7:c.682A>G MANE Select	ENSP00000331260.2:p.Ile228Val
ENST00000330877.6:c.682A>G	ENSP00000331260.2:p.Ile228Val
ENST00000332972.9:c.811A>G	ENSP00000333019.5:p.Ile271Val
ENST00000553540.5:c.794A>G	ENSP00000450759.1:n.794A>G
ENST00000555486.5:c.747A>G	ENSP00000473778.1:n.747A>G
ENST00000557582.5:n.1603A>G
NM_152328.3:c.682A>G	NP_689541.1:p.Ile228Val
NM_199165.1:c.811A>G	NP_954634.1:p.Ile271Val
XM_006720026.2:c.685A>G	XP_006720089.1:p.Ile229Val
XM_011536412.1:c.814A>G	XP_011534714.1:p.Ile272Val
XM_011536413.1:c.499A>G	XP_011534715.1:p.Ile167Val
XM_011536414.1:c.496A>G	XP_011534716.1:p.Ile166Val
XM_011536415.1:c.67A>G	XP_011534717.1:p.Ile23Val
NM_001320424.1:c.67A>G	NP_001307353.1:p.Ile23Val
NM_152328.4:c.682A>G	NP_689541.1:p.Ile228Val
NM_199165.2:c.811A>G	NP_954634.1:p.Ile271Val
XM_006720026.3:c.685A>G	XP_006720089.1:p.Ile229Val
XM_011536412.2:c.814A>G	XP_011534714.1:p.Ile272Val
NM_152328.5:c.682A>G MANE Select	NP_689541.1:p.Ile228Val