Canonical Allele Identifier: CA294236174

Gene: MGAT5B

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76940408A>G , CM000679.2:g.76940408A>G	GRCh38
NC_000017.10:g.74936490A>G , CM000679.1:g.74936490A>G	GRCh37
NC_000017.9:g.72448085A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000569840.7:c.1591A>G MANE Select	ENSP00000456037.2:p.Ile531Val
ENST00000301618.8:c.1585A>G	ENSP00000301618.4:p.Ile529Val
ENST00000428789.6:c.1618A>G	ENSP00000391227.2:p.Ile540Val
ENST00000565043.5:c.*35A>G	ENSP00000455631.1:n.*35A>G
ENST00000569840.6:c.1591A>G	ENSP00000456037.2:p.Ile531Val
NM_001199172.1:c.1591A>G	NP_001186101.1:p.Ile531Val
NM_144677.2:c.1585A>G	NP_653278.2:p.Ile529Val
NM_198955.1:c.1618A>G	NP_945193.1:p.Ile540Val
XM_005257065.3:c.1420A>G	XP_005257122.1:p.Ile474Val
XM_006721707.2:c.1402A>G	XP_006721770.1:p.Ile468Val
XM_011524348.1:c.1480A>G	XP_011522650.1:p.Ile494Val
XM_011524349.1:c.1480A>G	XP_011522651.1:p.Ile494Val
XM_011524350.1:c.1480A>G	XP_011522652.1:p.Ile494Val
XM_011524351.1:c.1480A>G	XP_011522653.1:p.Ile494Val
XM_011524352.1:c.1591A>G	XP_011522654.1:p.Ile531Val
XR_934377.1:n.2028A>G
XM_006721707.3:c.1402A>G	XP_006721770.1:p.Ile468Val
XM_011524350.3:c.1480A>G	XP_011522652.1:p.Ile494Val
XM_011524352.2:c.1591A>G	XP_011522654.1:p.Ile531Val
XM_017024200.1:c.1591A>G	XP_016879689.1:p.Ile531Val
XR_934377.3:n.1987A>G
NM_001199172.2:c.1591A>G MANE Select	NP_001186101.1:p.Ile531Val
NM_144677.3:c.1585A>G	NP_653278.2:p.Ile529Val