Canonical Allele Identifier: CA2320965080
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533262G= , CM000681.2:g.7533262G= GRCh38
NC_000019.9:g.7598148G= , CM000681.1:g.7598148G= GRCh37
NC_000019.8:g.7504148G= NCBI36
NG_013374.1:g.4111G=
NG_015806.1:g.15653G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1576-261G= MANE Select ENSP00000264079.5:n.1576-261G=
ENST00000264079.10:c.1576-261G= ENSP00000264079.5:n.1576-261G=
ENST00000394321.9:n.1891-261G=
ENST00000599334.1:c.304-261G=
NM_020533.2:c.1576-261G= NP_065394.1:n.1576-261G=
NM_020533.3:c.1576-261G= MANE Select NP_065394.1:n.1576-261G=