Canonical Allele Identifier: CA2320965211
Gene: MCOLN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533506C= , CM000681.2:g.7533506C= GRCh38
NC_000019.9:g.7598392C= , CM000681.1:g.7598392C= GRCh37
NC_000019.8:g.7504392C= NCBI36
NG_013374.1:g.4355C=
NG_015806.1:g.15897C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1576-17C= MANE Select ENSP00000264079.5:n.1576-17C=
ENST00000264079.10:c.1576-17C= ENSP00000264079.5:n.1576-17C=
ENST00000394321.9:n.1891-17C=
ENST00000599334.1:c.304-17C=
ENST00000602227.1:n.113C=
NM_020533.2:c.1576-17C= NP_065394.1:n.1576-17C=
NM_020533.3:c.1576-17C= MANE Select NP_065394.1:n.1576-17C=
Search 100 bp 5'
Search 100 bp 3'