Canonical Allele Identifier: CA8127772

Gene: SMPD3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68361213T>G , CM000678.2:g.68361213T>G	GRCh38
NC_000016.9:g.68395116T>G , CM000678.1:g.68395116T>G	GRCh37
NC_000016.8:g.66952617T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219334.10:c.1961A>C MANE Select	ENSP00000219334.5:p.Glu654Ala
ENST00000219334.9:c.1961A>C	ENSP00000219334.5:p.Glu654Ala
ENST00000563226.1:c.1937A>C	ENSP00000455955.1:p.Glu646Ala
ENST00000568373.5:c.1910A>C	ENSP00000457422.1:p.Glu637Ala
ENST00000574662.1:c.1080A>C
NM_018667.3:c.1961A>C	NP_061137.1:p.Glu654Ala
XM_005256031.2:c.1961A>C	XP_005256088.1:p.Glu654Ala
XM_005256032.2:c.1961A>C	XP_005256089.1:p.Glu654Ala
XM_011523207.1:c.1961A>C	XP_011521509.1:p.Glu654Ala
XM_011523208.1:c.1961A>C	XP_011521510.1:p.Glu654Ala
XM_011523209.1:c.1961A>C	XP_011521511.1:p.Glu654Ala
XM_005256031.4:c.1961A>C	XP_005256088.1:p.Glu654Ala
XM_005256032.3:c.1961A>C	XP_005256089.1:p.Glu654Ala
XM_011523208.2:c.1961A>C	XP_011521510.1:p.Glu654Ala
XM_011523209.2:c.1961A>C	XP_011521511.1:p.Glu654Ala
XM_017023405.1:c.1961A>C	XP_016878894.1:p.Glu654Ala
XM_017023406.1:c.1961A>C	XP_016878895.1:p.Glu654Ala
XM_017023407.1:c.1961A>C	XP_016878896.1:p.Glu654Ala
XM_017023408.1:c.1961A>C	XP_016878897.1:p.Glu654Ala
NM_018667.4:c.1961A>C MANE Select	NP_061137.1:p.Glu654Ala