Canonical Allele Identifier: CA304857400
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs764159698
gnomAD v2: 19-7598730-C-A
gnomAD v3: 19-7533844-C-A
gnomAD v4: 19-7533844-C-A
MyVariant Identifiers: chr19:g.7598730C>A (hg19) chr19:g.7533844C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533844C>A , CM000681.2:g.7533844C>A GRCh38
NC_000019.9:g.7598730C>A , CM000681.1:g.7598730C>A GRCh37
NC_000019.8:g.7504730C>A NCBI36
NG_013374.1:g.4693C>A
NG_015806.1:g.16235C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*49C>A MANE Select ENSP00000264079.5:n.*49C>A
ENST00000264079.10:c.*49C>A ENSP00000264079.5:n.*49C>A
ENST00000394321.9:n.2107C>A
ENST00000599334.1:c.520C>A
ENST00000601870.1:c.145C>A
ENST00000602227.1:n.346C>A
NM_020533.2:c.*49C>A NP_065394.1:n.*49C>A
NM_020533.3:c.*49C>A MANE Select NP_065394.1:n.*49C>A
Search 100 bp 5'
Search 100 bp 3'