Canonical Allele Identifier: CA391240396

Gene: ADSS1

Linked Data

• MyVariant Identifiers: chr14:g.105207470T>A (hg19) ; chr14:g.104741133T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741133T>A , CM000676.2:g.104741133T>A	GRCh38
NC_000014.8:g.105207470T>A , CM000676.1:g.105207470T>A	GRCh37
NC_000014.7:g.104278515T>A	NCBI36
NG_051175.1:g.21937T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.683T>A	ENSP00000518203.1:p.Ile228Asn
ENST00000330877.7:c.683T>A MANE Select	ENSP00000331260.2:p.Ile228Asn
ENST00000330877.6:c.683T>A	ENSP00000331260.2:p.Ile228Asn
ENST00000332972.9:c.812T>A	ENSP00000333019.5:p.Ile271Asn
ENST00000553540.5:c.795T>A	ENSP00000450759.1:n.795T>A
ENST00000555486.5:c.748T>A	ENSP00000473778.1:n.748T>A
ENST00000557582.5:n.1604T>A
NM_152328.3:c.683T>A	NP_689541.1:p.Ile228Asn
NM_199165.1:c.812T>A	NP_954634.1:p.Ile271Asn
XM_006720026.2:c.686T>A	XP_006720089.1:p.Ile229Asn
XM_011536412.1:c.815T>A	XP_011534714.1:p.Ile272Asn
XM_011536413.1:c.500T>A	XP_011534715.1:p.Ile167Asn
XM_011536414.1:c.497T>A	XP_011534716.1:p.Ile166Asn
XM_011536415.1:c.68T>A	XP_011534717.1:p.Ile23Asn
NM_001320424.1:c.68T>A	NP_001307353.1:p.Ile23Asn
NM_152328.4:c.683T>A	NP_689541.1:p.Ile228Asn
NM_199165.2:c.812T>A	NP_954634.1:p.Ile271Asn
XM_006720026.3:c.686T>A	XP_006720089.1:p.Ile229Asn
XM_011536412.2:c.815T>A	XP_011534714.1:p.Ile272Asn
NM_152328.5:c.683T>A MANE Select	NP_689541.1:p.Ile228Asn