Canonical Allele Identifier: CA2320965673
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1599259201
gnomAD v4: 19-7534001-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534001T>C , CM000681.2:g.7534001T>C GRCh38
NC_000019.9:g.7598887T>C , CM000681.1:g.7598887T>C GRCh37
NC_000019.8:g.7504887T>C NCBI36
NG_013374.1:g.4850T>C
NG_015806.1:g.16392T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*206T>C MANE Select ENSP00000264079.5:n.*206T>C
ENST00000264079.10:c.*206T>C ENSP00000264079.5:n.*206T>C
ENST00000601870.1:c.169+133T>C
NM_020533.2:c.*206T>C NP_065394.1:n.*206T>C
NM_020533.3:c.*206T>C MANE Select NP_065394.1:n.*206T>C
Search 100 bp 5'
Search 100 bp 3'