Canonical Allele Identifier: CA9139269
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs763962735
ExAC: 19:7598732 C / T
gnomAD v2: 19-7598732-C-T
gnomAD v4: 19-7533846-C-T
MyVariant Identifiers: chr19:g.7598732C>T (hg19) chr19:g.7533846C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533846C>T , CM000681.2:g.7533846C>T GRCh38
NC_000019.9:g.7598732C>T , CM000681.1:g.7598732C>T GRCh37
NC_000019.8:g.7504732C>T NCBI36
NG_013374.1:g.4695C>T
NG_015806.1:g.16237C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*51C>T MANE Select ENSP00000264079.5:n.*51C>T
ENST00000264079.10:c.*51C>T ENSP00000264079.5:n.*51C>T
ENST00000394321.9:n.2109C>T
ENST00000599334.1:c.522C>T
ENST00000601870.1:c.147C>T
ENST00000602227.1:n.348C>T
NM_020533.2:c.*51C>T NP_065394.1:n.*51C>T
NM_020533.3:c.*51C>T MANE Select NP_065394.1:n.*51C>T
Search 100 bp 5'
Search 100 bp 3'