Canonical Allele Identifier: CA631462890
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1457497304
gnomAD v2: 19-7598710-C-T
MyVariant Identifiers: chr19:g.7598710C>T (hg19) chr19:g.7533824C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533824C>T , CM000681.2:g.7533824C>T GRCh38
NC_000019.9:g.7598710C>T , CM000681.1:g.7598710C>T GRCh37
NC_000019.8:g.7504710C>T NCBI36
NG_013374.1:g.4673C>T
NG_015806.1:g.16215C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*29C>T MANE Select ENSP00000264079.5:n.*29C>T
ENST00000264079.10:c.*29C>T ENSP00000264079.5:n.*29C>T
ENST00000394321.9:n.2087C>T
ENST00000599334.1:c.500C>T
ENST00000601870.1:c.125C>T
ENST00000602227.1:n.326C>T
NM_020533.2:c.*29C>T NP_065394.1:n.*29C>T
NM_020533.3:c.*29C>T MANE Select NP_065394.1:n.*29C>T
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Search 100 bp 3'