Canonical Allele Identifier: CA391240675

Gene: ADSS1

Linked Data

• MyVariant Identifiers: chr14:g.105207533A>C (hg19) ; chr14:g.104741196A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741196A>C , CM000676.2:g.104741196A>C	GRCh38
NC_000014.8:g.105207533A>C , CM000676.1:g.105207533A>C	GRCh37
NC_000014.7:g.104278578A>C	NCBI36
NG_051175.1:g.22000A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710323.1:c.746A>C	ENSP00000518203.1:p.Lys249Thr
ENST00000330877.7:c.746A>C MANE Select	ENSP00000331260.2:p.Lys249Thr
ENST00000330877.6:c.746A>C	ENSP00000331260.2:p.Lys249Thr
ENST00000332972.9:c.875A>C	ENSP00000333019.5:p.Lys292Thr
ENST00000553540.5:c.858A>C	ENSP00000450759.1:n.858A>C
ENST00000555486.5:c.811A>C	ENSP00000473778.1:n.811A>C
ENST00000557582.5:n.1667A>C
NM_152328.3:c.746A>C	NP_689541.1:p.Lys249Thr
NM_199165.1:c.875A>C	NP_954634.1:p.Lys292Thr
XM_006720026.2:c.749A>C	XP_006720089.1:p.Lys250Thr
XM_011536412.1:c.878A>C	XP_011534714.1:p.Lys293Thr
XM_011536413.1:c.563A>C	XP_011534715.1:p.Lys188Thr
XM_011536414.1:c.560A>C	XP_011534716.1:p.Lys187Thr
XM_011536415.1:c.131A>C	XP_011534717.1:p.Lys44Thr
NM_001320424.1:c.131A>C	NP_001307353.1:p.Lys44Thr
NM_152328.4:c.746A>C	NP_689541.1:p.Lys249Thr
NM_199165.2:c.875A>C	NP_954634.1:p.Lys292Thr
XM_006720026.3:c.749A>C	XP_006720089.1:p.Lys250Thr
XM_011536412.2:c.878A>C	XP_011534714.1:p.Lys293Thr
XR_001750917.1:n.513T>G
NM_152328.5:c.746A>C MANE Select	NP_689541.1:p.Lys249Thr