Canonical Allele Identifier: CA2320962627
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528056G= , CM000681.2:g.7528056G= GRCh38
NC_000019.9:g.7592942G= , CM000681.1:g.7592942G= GRCh37
NC_000019.8:g.7498942G= NCBI36
NG_015806.1:g.10447G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.777+96G= MANE Select ENSP00000264079.5:n.777+96G=
ENST00000264079.10:c.777+96G= ENSP00000264079.5:n.777+96G=
ENST00000394321.9:n.1092+96G=
NM_020533.2:c.777+96G= NP_065394.1:n.777+96G=
NM_020533.3:c.777+96G= MANE Select NP_065394.1:n.777+96G=
Search 100 bp 5'
Search 100 bp 3'