Canonical Allele Identifier: CA391240754

Gene: ADSS1

Linked Data

• MyVariant Identifiers: chr14:g.105207554A>C (hg19) ; chr14:g.104741217A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741217A>C , CM000676.2:g.104741217A>C	GRCh38
NC_000014.8:g.105207554A>C , CM000676.1:g.105207554A>C	GRCh37
NC_000014.7:g.104278599A>C	NCBI36
NG_051175.1:g.22021A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710323.1:c.767A>C	ENSP00000518203.1:p.Asn256Thr
ENST00000330877.7:c.767A>C MANE Select	ENSP00000331260.2:p.Asn256Thr
ENST00000330877.6:c.767A>C	ENSP00000331260.2:p.Asn256Thr
ENST00000332972.9:c.896A>C	ENSP00000333019.5:p.Asn299Thr
ENST00000553540.5:c.879A>C	ENSP00000450759.1:n.879A>C
ENST00000555486.5:c.832A>C	ENSP00000473778.1:n.832A>C
ENST00000557582.5:n.1688A>C
NM_152328.3:c.767A>C	NP_689541.1:p.Asn256Thr
NM_199165.1:c.896A>C	NP_954634.1:p.Asn299Thr
XM_006720026.2:c.770A>C	XP_006720089.1:p.Asn257Thr
XM_011536412.1:c.899A>C	XP_011534714.1:p.Asn300Thr
XM_011536413.1:c.584A>C	XP_011534715.1:p.Asn195Thr
XM_011536414.1:c.581A>C	XP_011534716.1:p.Asn194Thr
XM_011536415.1:c.152A>C	XP_011534717.1:p.Asn51Thr
NM_001320424.1:c.152A>C	NP_001307353.1:p.Asn51Thr
NM_152328.4:c.767A>C	NP_689541.1:p.Asn256Thr
NM_199165.2:c.896A>C	NP_954634.1:p.Asn299Thr
XM_006720026.3:c.770A>C	XP_006720089.1:p.Asn257Thr
XM_011536412.2:c.899A>C	XP_011534714.1:p.Asn300Thr
XR_001750917.1:n.492T>G
NM_152328.5:c.767A>C MANE Select	NP_689541.1:p.Asn256Thr