Canonical Allele Identifier: CA391240401

Gene: ADSS1

Linked Data

• MyVariant Identifiers: chr14:g.105207471C>G (hg19) ; chr14:g.104741134C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741134C>G , CM000676.2:g.104741134C>G	GRCh38
NC_000014.8:g.105207471C>G , CM000676.1:g.105207471C>G	GRCh37
NC_000014.7:g.104278516C>G	NCBI36
NG_051175.1:g.21938C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.684C>G	ENSP00000518203.1:p.Ile228Met
ENST00000330877.7:c.684C>G MANE Select	ENSP00000331260.2:p.Ile228Met
ENST00000330877.6:c.684C>G	ENSP00000331260.2:p.Ile228Met
ENST00000332972.9:c.813C>G	ENSP00000333019.5:p.Ile271Met
ENST00000553540.5:c.796C>G	ENSP00000450759.1:n.796C>G
ENST00000555486.5:c.749C>G	ENSP00000473778.1:n.749C>G
ENST00000557582.5:n.1605C>G
NM_152328.3:c.684C>G	NP_689541.1:p.Ile228Met
NM_199165.1:c.813C>G	NP_954634.1:p.Ile271Met
XM_006720026.2:c.687C>G	XP_006720089.1:p.Ile229Met
XM_011536412.1:c.816C>G	XP_011534714.1:p.Ile272Met
XM_011536413.1:c.501C>G	XP_011534715.1:p.Ile167Met
XM_011536414.1:c.498C>G	XP_011534716.1:p.Ile166Met
XM_011536415.1:c.69C>G	XP_011534717.1:p.Ile23Met
NM_001320424.1:c.69C>G	NP_001307353.1:p.Ile23Met
NM_152328.4:c.684C>G	NP_689541.1:p.Ile228Met
NM_199165.2:c.813C>G	NP_954634.1:p.Ile271Met
XM_006720026.3:c.687C>G	XP_006720089.1:p.Ile229Met
XM_011536412.2:c.816C>G	XP_011534714.1:p.Ile272Met
NM_152328.5:c.684C>G MANE Select	NP_689541.1:p.Ile228Met