Canonical Allele Identifier: CA340940771

Gene: MCOLN3 DNAI3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.85034148T>G , CM000663.2:g.85034148T>G	GRCh38
NC_000001.10:g.85499831T>G , CM000663.1:g.85499831T>G	GRCh37
NC_000001.9:g.85272419T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018298.11:c.500A>C (MCOLN3) MANE Select	NP_060768.8:p.Asn167Thr
ENST00000370589.7:c.500A>C (MCOLN3) MANE Select	ENSP00000359621.1:p.Asn167Thr
NM_001253693.1:c.332A>C (MCOLN3)	NP_001240622.1:p.Asn111Thr
NM_001253693.2:c.332A>C (MCOLN3)	NP_001240622.1:p.Asn111Thr
NM_018298.10:c.500A>C (MCOLN3)	NP_060768.8:p.Asn167Thr
ENST00000341115.8:c.332A>C (MCOLN3)	ENSP00000342698.3:p.Asn111Thr
ENST00000370587.5:c.500A>C (MCOLN3)	ENSP00000359619.1:p.Asn167Thr
ENST00000370589.6:c.500A>C (MCOLN3)	ENSP00000359621.1:p.Asn167Thr
ENST00000370596.5:c.-15+34810T>G (DNAI3)	ENSP00000359628.1:n.-15+34810T>G
ENST00000490600.6:c.*233A>C (MCOLN3)	ENSP00000474024.1:n.*233A>C
XM_005271003.1:c.500A>C (MCOLN3)	XP_005271060.1:p.Asn167Thr
XM_006710750.1:c.500A>C (MCOLN3)	XP_006710813.1:p.Asn167Thr
XM_006710752.1:c.50-1192A>C (MCOLN3)	XP_006710815.1:n.50-1192A>C
XM_011541739.1:c.572A>C (MCOLN3)	XP_011540041.1:p.Asn191Thr
XM_011541739.2:c.539A>C (MCOLN3)	XP_011540041.2:p.Asn180Thr
XM_011541740.1:c.404A>C (MCOLN3)	XP_011540042.1:p.Asn135Thr
XM_011541740.2:c.404A>C (MCOLN3)	XP_011540042.1:p.Asn135Thr
XM_011541741.1:c.572A>C (MCOLN3)	XP_011540043.1:p.Asn191Thr
XM_011541741.2:c.572A>C (MCOLN3)	XP_011540043.1:p.Asn191Thr
XM_011541742.1:c.35A>C (MCOLN3)	XP_011540044.1:p.Asn12Thr
XM_011541743.1:c.50-1192A>C (MCOLN3)	XP_011540045.1:n.50-1192A>C
XR_946699.1:n.591A>C (MCOLN3)
XR_946699.2:n.578A>C (MCOLN3)