Canonical Allele Identifier: CA391240840

Gene: ADSS1

Linked Data

• MyVariant Identifiers: chr14:g.105207575A>C (hg19) ; chr14:g.104741238A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741238A>C , CM000676.2:g.104741238A>C	GRCh38
NC_000014.8:g.105207575A>C , CM000676.1:g.105207575A>C	GRCh37
NC_000014.7:g.104278620A>C	NCBI36
NG_051175.1:g.22042A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.788A>C	ENSP00000518203.1:p.Asp263Ala
ENST00000330877.7:c.788A>C MANE Select	ENSP00000331260.2:p.Asp263Ala
ENST00000330877.6:c.788A>C	ENSP00000331260.2:p.Asp263Ala
ENST00000332972.9:c.917A>C	ENSP00000333019.5:p.Asp306Ala
ENST00000553540.5:c.900A>C	ENSP00000450759.1:n.900A>C
ENST00000555486.5:c.853A>C	ENSP00000473778.1:n.853A>C
ENST00000557582.5:n.1709A>C
NM_152328.3:c.788A>C	NP_689541.1:p.Asp263Ala
NM_199165.1:c.917A>C	NP_954634.1:p.Asp306Ala
XM_006720026.2:c.791A>C	XP_006720089.1:p.Asp264Ala
XM_011536412.1:c.920A>C	XP_011534714.1:p.Asp307Ala
XM_011536413.1:c.605A>C	XP_011534715.1:p.Asp202Ala
XM_011536414.1:c.602A>C	XP_011534716.1:p.Asp201Ala
XM_011536415.1:c.173A>C	XP_011534717.1:p.Asp58Ala
NM_001320424.1:c.173A>C	NP_001307353.1:p.Asp58Ala
NM_152328.4:c.788A>C	NP_689541.1:p.Asp263Ala
NM_199165.2:c.917A>C	NP_954634.1:p.Asp306Ala
XM_006720026.3:c.791A>C	XP_006720089.1:p.Asp264Ala
XM_011536412.2:c.920A>C	XP_011534714.1:p.Asp307Ala
XR_001750917.1:n.471T>G
NM_152328.5:c.788A>C MANE Select	NP_689541.1:p.Asp263Ala