Canonical Allele Identifier: CA391240398

Gene: ADSS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.683T>G	ENSP00000518203.1:p.Ile228Ser
ENST00000330877.7:c.683T>G MANE Select	ENSP00000331260.2:p.Ile228Ser
ENST00000330877.6:c.683T>G	ENSP00000331260.2:p.Ile228Ser
ENST00000332972.9:c.812T>G	ENSP00000333019.5:p.Ile271Ser
ENST00000553540.5:c.795T>G	ENSP00000450759.1:n.795T>G
ENST00000555486.5:c.748T>G	ENSP00000473778.1:n.748T>G
ENST00000557582.5:n.1604T>G
NM_152328.3:c.683T>G	NP_689541.1:p.Ile228Ser
NM_199165.1:c.812T>G	NP_954634.1:p.Ile271Ser
XM_006720026.2:c.686T>G	XP_006720089.1:p.Ile229Ser
XM_011536412.1:c.815T>G	XP_011534714.1:p.Ile272Ser
XM_011536413.1:c.500T>G	XP_011534715.1:p.Ile167Ser
XM_011536414.1:c.497T>G	XP_011534716.1:p.Ile166Ser
XM_011536415.1:c.68T>G	XP_011534717.1:p.Ile23Ser
NM_001320424.1:c.68T>G	NP_001307353.1:p.Ile23Ser
NM_152328.4:c.683T>G	NP_689541.1:p.Ile228Ser
NM_199165.2:c.812T>G	NP_954634.1:p.Ile271Ser
XM_006720026.3:c.686T>G	XP_006720089.1:p.Ile229Ser
XM_011536412.2:c.815T>G	XP_011534714.1:p.Ile272Ser
NM_152328.5:c.683T>G MANE Select	NP_689541.1:p.Ile228Ser