Canonical Allele Identifier: CA884201923
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1488895194
MyVariant Identifiers: chr19:g.7593225_7593226insT (hg19) chr19:g.7528339_7528340insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528340dup , CM000681.2:g.7528340dup GRCh38
NC_000019.9:g.7593226dup , CM000681.1:g.7593226dup GRCh37
NC_000019.8:g.7499226dup NCBI36
NG_015806.1:g.10731dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.877+83dup MANE Select ENSP00000264079.5:n.877+83dup
ENST00000264079.10:c.877+83dup ENSP00000264079.5:n.877+83dup
ENST00000394321.9:n.1192+83dup
NM_020533.2:c.877+83dup NP_065394.1:n.877+83dup
NM_020533.3:c.877+83dup MANE Select NP_065394.1:n.877+83dup
Search 100 bp 5'
Search 100 bp 3'